Showing 19 results for lali
Mahmoud Pedram , Mohammad Taha Jalali , Fazlolah Ahmadi Esfahani,
Volume 1, Issue 5 (Winter 1997)
Abstract
Serum concentration of lipoprotein(a) is a genetically determined. Independent risk factor for coronary artery disease. Different studies suggest a possible role for a antioxidant and free radicals in the rate of lipoprotein (a) synthesis. Patients suffering from chronic renal failure (CRF) are known to be less guarded against oxidative products in comparison with normal population. In order to investigate the pattern of lipoprotein (a) serum concentration in CRF group, 87 number of patients undergoing supportive hemodialysis was selected and their Lp(a) serum concentration were compared with a control group (n=100). The result shows a significant elevation of LP(a) serum concentration in the patients in comparison with the control group (p,0.05).
Farideh Karymi, Farhadie Langaraoudi, Ali Akbar Poorfathollah, Hosein Jalali Khou,
Volume 3, Issue 3 (Autumn 2000)
Abstract
DNA analysis by flow cytometry is one of novel techniques recently introduce of utilize in routine clinical diagnosis laboratories , generally, there is an wverall agreement between DNA status and chromosomal content of cells, so with DNA analysis especially in neoplastic diseases, one coukd find the ploidy feature and number of cells which are in synthetic phase (S-phase fraction) and also cellular kinetics in select neoplasia, which are charactristics findings and factors that could be used as prognostic markers for predicting clinical behaviour and monitoring response to treatment protocol. In this study, we measured DNA content in eighty eight (88_ malignant lymphopreliferation diseases including 58 NHL and 30 HD diagnosed histopathologycally, by flow cytometry using Hedley method, Also immunohistochemical staining for proper immunophenotyping done in selected cases with ABC method with MoAb,s. Aneuploidy were 38% in NHL and 47% in HD patients. This occurance was unrelated to other parameters used as Age, tumor location and histologic subtypes. (P>0.05) S-phase fraction (SPF) measurement calculated as percentage of cellw in active phase and proligeration index determinations reveral higher frequency of SPF (PI) within Iranian patients rather than reported Western patients. This finding can account for lower survival rate and poor response to chemotherapy and (or radiotherapeutic regimen used in Iranian patients, but also other parameters in this regard also should be considered simultaneously.
Kobra Rahzani, Ali Akbar Maleki Rad, Nasrin Elahi, Mehran Jalali, Mohammad Hossein Haghighi ,
Volume 7, Issue 2 (Summer 2004)
Abstract
Introduction: Tension headache is the most common type of headache. Tension headache is mostly caused by stress, anxiety and depression. Treatment is by pharmacological and nonpharmacological methods. Nowdays nonpharmacological methods are used increasingly. This is a response to the over use of drugs, side effects and cost. The purpose of chronic tension headache.
Materials and Methods: This research is a clinical trial study. 25 women suffered from chronic tension headache were treated by massage during 5 weeks. Samples were asked to record headache indexes in a checklist four times a day (before breakfast, before launch , before dinner and before sleep) through these 5 weeks. Data from the first and fifth weeks were recorded as pre and post intervention data and data from the second, third and fourth weeks of investigations were recorded as the data during intervention. During the intervention samples were treated twice a week for 20 minutes each time with the friction massage on posterior parts of the neck and shoulders. Headache indexes included: intensity, frequency and duration of headache, headache intensity was recorded using 11 points criteria. Headache frequency was measured by calculating the days of headache in a week and the duration of the headache was calculated by dividing sum of headache hours in a week to the frequency of attacks. Data was analyzed by analysis of variance and Tukey test.
Results: Results showed the positive effect of massage in which headache indexes showed a meaningful difference in three stages of pre, during and post intervention (p<0.01).
The recovery rates for each index were 52%, 28% and 57% respectively.
Conclusion: Massage therapy resulted in the reduction of intensity, frequency and duration of tension headache and can be useful in treatment of tension headache .
Mohsen Khalili Najaf Abadi, Mohammad Reza Jalali Nodoshen, Hedayat Sahraee, Ali Norooz Zadeh,
Volume 8, Issue 4 (12-2005)
Abstract
Dr Bijan Yazdi, Dr Seyed Mehdi Jalali,
Volume 9, Issue 2 (6-2006)
Abstract
Introduction: Clonidine, as a premedicant in anesthesia, has a special role in decreasing anesthetic agents' dose and improving sedation. Because of its effects on body hemodynamics and electrolytes and the importance of these effects during anesthesia, we decided to investigate these side effects in this study. Materials and Methods: This is a double blind randomized clinical trial. Samples were 104 ASA Class Ι & Π, 20-40 years old patients, undergoing elective surgery and were divided equally into two groups (case and control). 90 minutes before induction of anesthesia, 5μg/kg Clonidine was given to the case and placebo to the control group orally. Blood samples were taken before and 4 hours after induction of anesthesia. Also 24 hours urine was collected and measured for volume and sodium and potassium concentrations. Data analysis was done using independent T test. Results: There wasn’t any significant difference between two groups in the mean concentration of blood sodium and potassium before and after taking the drug. But the mean sodium and potassium concentration in urine was significantly more in the case group (P = 0.022 and P = 0.003 respectively). The volume of 24 hours urine was also more in the case group (P = 0.008). Conclusion: Although Clonidine induces diuresis and increases sodium and potassium excretion, blood concentration of these electrolytes doesn’t change significantly.
Fatemeh Hajihosseini, Azar Avazeh, Nasrin Elahi, Abdolali Shariati, Dr Hamid Souri,
Volume 9, Issue 3 (9-2006)
Abstract
Introduction: Sensory stimulation of comatos patients is an important nursing intervention for increasing their LOC and tactile stimulation especially massage is one of the most important stimulations. The nurse as a person, who is responsible for this, must know the effects of this intervention on patients. But there are some conflicts about this intervention's effects especially on vital signs (pulse, blood pressure and respiration). This study was done to determine the effect of massage on comatos patient's vital signs who were hospitalized in intensive care unit. Materials and Methods: This study is a clinical trial. Samples were consisted of 100 comatos patients, divided into two equal groups randomly. The two groups were matched in age, geneder and glascow coma scale. Samples in experimental group received 20 minutes massage on their back, feet and hands in three continuous days. Vital signs in experimental group were measured before and immediately after intervention and vital signs in control group were measured at the same time with experimental group. A check list used was used for collecting data. Data was analyzed using descriptive and analytic statistics (T, paired T and Chi-square tests). Results: Findings showed that massage decreased vital signs significantly as followed: pulse rate and diastolic blood pressure in each three days (p<0.05), systolic blood pressure in first and third days (p<0.05), respiration rate in second day (p<0.05). Conclusion: This study showed that massage can decrease comatos patients' vital signs which can be the indicator of their relaxation and decreasing stress.
Afsane Talali, Masoud Amini, Maryam Zare, Mansour Siavash,
Volume 10, Issue 3 (6-2007)
Abstract
Introduction: Dehydroepiandrostrone (DHEA) and its sulfate form is an adrenal hormone and is the most common steroidal hormone in body and despite of other adrenal hormones increases with age, so it is called youth fountain. Recently, DHEA is noticed increasingly because of its multiple effects. Its effect on insulin sensitivity is controversial. In this study the relation between Dehydroepiandrostrone (DHEA) level and Insulin sensitivity is investigated. Materials and Methods: In this cross-sectional analytical study, samples were selected among female relatives of diabetic patients referring to Isfahan Endocrine Research Center. They were divided into three groups including diabetic, impaired glucose tolerance and normal glucose tolerance, each 30 persons. In these groups blood sugar, lipid, CBC, Insulin and DHEA-S levels were evaluated and the rate of Insulin sensitivity was determined using Homeostatic Modle Assessment- Insulin Resistance (HOMA-IR) and the relation between insulin sensitivity rate and DHEA in the three groups was compared. Data was analyzed using one way analysis of variance and t-tests. Results: The mean of variables in the three groups of diabetic, impaired glucose tolerance and normal glucose tolerance for DHEA-S was 127, 113, 129 mcg/dl Insulin 7.7, 1.10, 8.3 mcg/ml HOMA-IR 1.6, 3.5, 1.8 and fasting blood sugar 86, 135, 89 mg/dl respectively. Comparison of mean of variables showed that the difference between DHEA-S in groups was not significant. Also there was no meaningful relationship between DHEA-S and blood sugar. In the group with normal glucose tolerance, DHEA-S with HOMA-IR and insulin had a partial meaningful relation (p<0.06). Conclusion: Overally DHEA has no meaningful relation with insulin sensitivity and HOMA-IR, but this relation is meaningful in the three groups and the relation between DHEA-S with HOMA-IR in the group with normal glucose tolerance is partially meaningful.
Safieh Sofian, Hossein Nadri Manesh, Abdolali Alizadeh,
Volume 11, Issue 4 (12-2008)
Abstract
Background: Aurein 1/2 is a 13-residue peptide with a vast antimicrobial and anticancer activity. Two- dimensional NMR spectroscopy of peptide solubilized in the 70% TFE (2, 2, 2-Trifluoroethanol) indicated an alpha-helical conformation. The mechanism of its action is not yet fully recognized. This study was designed to improve the antimicrobial activity and relationship between subsequence-activity in Aurein 1/2 and its analoges. Analogs of this peptide were designed and synthesized. Methods and Materials: The G1F3/RW and F3W analogs and retro - analog were synthesized with solide phase and purified via HPLC and lyophilized. These analogs were assayed by several methods: amino acid analysis, HPLC, and electrospray mass spectrometry. Then antimicrobial activity of the peptides was assessed by using the standard microdilution susceptibility test. Results: The data demonstrated that G1F3/RW analog had a higher activity and results of test figure of minimum inhibitory concentration for F3W analog had three levels. But the native, F3W analog and retro-analog was inactive. Conclusion: The higher activity of G1F3/RW in compare to F3W may be related to the positive charge of Arg that leading stronger interaction with the negative charges on the membrane surface. The result showed that reversed direction of aurein 1/2 significantly effects on activity of the peptide. It is also suggested inactivation of reto-analog amino acid type, position and size should be cautious for peptides designed as drug because it may be effect to control dimerization and maintenance of antimicrobial activity of the peptide.
Marzieh Akbarzadeh, Batol Bonyadpoure, Kayvan Pacshir, Abdolali Mohagheghzadeh,
Volume 13, Issue 3 (9-2010)
Abstract
Background: Candida vaginitis which is mostly caused by Candida albicans is the second common cause of vaginal candidiasis in women. This study was designed to determine the clinical symptoms of Candida vaginitis and their relationship with the types of Candida species in women referring to the clinics of Shiraz University of Medical Sciences. Materials and Methods: In an analytical study, over a seven month period of sampling, through the examination of the history of 1100 patients, 450 were identified with chief complaints regarding genital infection. Samples were obtained from 280 of these patients according to their histories and the characteristics of their vaginal discharges. Of these patients, 105 were diagnosed with Candida vaginitis. The analysis of Candidal species was done through germ tube and chlamidospore agar tests. Results: Urogenital itching was severe in more than 43.8% of patients. White color genital discharges were more observable than other symptoms (88.6%). In negative Candida culture samples, severe itching, white color discharge, and disuria were reported to be 23, 80.8, and 43.5%, respectively. Candida albicans composed 70.5% of the samples. Colony count was between 51 and 500 in 49.5% of all samples. There were no significant relationships between colony count and rate of itching, family planning program, and other symptoms. Conclusion: Due to the uncertainty of diagnosis of this disease according to clinical symptoms and also, due to the consistency and resistance of Candida species, using culture method is recommended as a standard method of diagnosis.
Mohammad Bagher Kajbaf, Amir Keshavarz, Abolghasem Nouri, Mohsen Lali, Mohammad Soltanizadeh,
Volume 13, Issue 4 (1-2011)
Abstract
Background: Nowadays, many Iranian families, depending on the family members’ level of interest, tend to keep pet animals. Psychological studies have rarely dealt with the impact of pets on family performance and individuals’ mental health. The purpose of this study was to compare family performance and mental health in individuals who own pets and those who do not. Materials and Methods: In this case-control study, 152 participants (80 pet keeping and 72 non-pet keeping) living in Isfahan were selected through stratified random sampling and completed Family Assessment Device (FAD), General Health Questionnaire (GHQ), and a demographic questionnaire. Data analysis was done through multivariate regression and covariance analysis. Results: The results indicated significant differences between the pet keeping and non-pet keeping groups in terms of anxiety, sleep disorders, relationships, and emotional involvement therefore, it can be concluded that non-pet keeping individuals have more anxiety and sleep disorder symptoms, whereas pet keeping individuals present more problems in terms of emotional involvement and their relationships(p<0.05). Conclusion: According to the results, it is suggested that in keeping pets, greater attention should be to cultural factors. Also, in some circumstances keeping pets should be recommended for reduction of anxiety and elevation of sense of security and relaxation.
Zahra Hasanvand, Farideh Jalali Mashayekhi, Abdorrahim Sadeghi, Mohammad Reza Rezvanfar, Mohammad Taghi Goodarzi,
Volume 17, Issue 9 (12-2014)
Abstract
Background: Gestational diabetes mellitus (GDM) is defined as glucose intolerance with first dignosis during pregnancy. There is some evidence indicating that chemerin play a role in the development of GDM. In this study, for the first time, a possible association of rs17173608 polymorphism in the chemerin gene with the risk of GDM in Arak population was investigated.
Materials and Methods: In this case-control study, 120 GDM and 150 pregnant women with normal glucose tolerance were selected. GDM was confirmed by oral glucose tolerance according to the new IADPSG criteria. Genomic DNA was extracted from EDTA treated whole blood. The polymorphism of chemerin gene was determined using tetra-amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR).
Results: The genotype frequencies of TT, GT and GG at rs17173608 were respectively 81.7%, 17.5% and 0.8% in the GDM group and 73.3%, 25.3% and 1.3% in the control group. There were no statistical differences in genotype frequencies between case group and the control group. Also, allele frequencies in the GDM group (T 90.4% , G 9.6%), did not differ significantly from the control group ( T 96% ,G 14%). No association was found between genotype frequencies and FBS, 1h, 2 h and BMI.
Conclusion: The present study show that the rs17173608 polymorphism in the chemerin gene is not associated with the development of glucose intolerance and GDM in the studied population.
Atefeh Biabangard Zak, Masoud Golalipour, Gholamreza Hadadchi, Alireza Abbaspour,
Volume 17, Issue 11 (2-2015)
Abstract
Background: Due to the changing lifestyle in terms of nutrition and physical activity, obesity has become one of the major challenges to human health. The study of metabolic factors involved in this phenomenon plays an important role in preventing and treating the obesity. The aim of this study was to investigate the relationship between testosterone level and serum lipoproteins such as LDL and HDL with Body Mass Index (BMI), in different age groups of men in Golestan population.
Materials and Methods: In this case-control study, 183 men were randomly selected during 2012. Anthropometric measures (weight and height) were obtained according to standard methods, and BMI was calculated for each one. Data was analyzed using SPSS version 16. Pearson bivariate correlation test between groups and one-way Anova test was performed and p<0.05 being considered as significant.
Results: Data analysis showed a significant inverse correlation between BMI and serum testosterone level (p=0.005). In the study population, higher BMI was associated with increased LDL level (p=0.049) and also increasing age (p=0.011). In addition, an inverse relationship was observed between BMI and HDL levels that were not statistically significant (p=0.068).
Conclusion: The results of this study indicate that weight gain is associated with increased LDL and low testosterone serum level, and this relation is more meaningful in old men.
Parsa Zargar, Esmaeel Ghani, Farideh Jalali Mashayekhi, Ebrahim Eftekhar,
Volume 19, Issue 3 (6-2016)
Abstract
Background: A small percent of patients with colorectal cancer (CRC) respond to 5-Fluorouracil (5-FU), as a first line of chemotherapy. In this study in, in order to design a new chemotherapy protocol, the effect of 5-FU and acriflavine (ACF) cotreatment on mortality rate of CRC cell lines was investigated.
Materials and Methods: Cytotoxicity of 5-FU and ACF against CRC cell lines (LS174T, SW480 and HCT116) was detected using MTT assay. Cells were treated with different concentrations of 5-FU (0.5-64 µM) or ACF (0.07-5 µM) for 72 hours and then cell viability and drugs IC50 was calculated. To assess the effect of ACF on anticancer activity of 5-FU, cells were cotreated with different concentrations of 5-FU and IC30 concentration of ACF.
Results: ACF and 5-FU suppress the viability of CRC cell lines in dose-dependent manner. 5-FU and ACF have most cytotoxic effect on LS174T and the lowest cytotoxic effect on SW480 cells. Cotreatment of ACF with 5-FU could not significantly change the sensitivity of cells against 5-FU (p>0.05).
Conclusion: In this study, the fatal and cytotoxic effect of ACF on three CRC cell lines was shown. However, cotreatment of ACF with 5-FU could not improve the anticancer activity of 5-FU.
Zahra Abdolalian, Mohammad Rafeie, Ahmad Reza Baghestani, Mohamad Amin Pourhosseingholi, Tahoura Daneshvar,
Volume 19, Issue 9 (12-2016)
Abstract
Abstract
Background: 4cure models are a model to analyze survival data that these models exist for long term survivors. Cure models are a special type of survival model where it is assumed that there are a proportion of subjects who had never event, thus, survival curve will eventually reach a plateau. Therefore, standard survival models are not appropriate because they do not account for the possibility of cure.The aim of the present research is to apply non-mixture cure model to analyze survival of patients with colorectal cancer.
Materials and Methods: We studied 232 patients with colorectal cancer who were visited and treated at Taleghani Hospital Research Center for Gastroenterology and Liver Disease in Tehran. These patients were diagnosed from 1987 to 2012 and followed up until 2013. The Effect of age, gender, family history, body mass index and site of infection were studied. Kaplan-Meier and Non-Mixture cure Model were used for analzing data.
Results: The ten-year survival rate after diagnosis in the studied patients was 64 % .A total of 60 (25.8 %) deaths due to colorectal cancer were observed. The mean of age at the time of diagnosis was 51.6 years. Based on non-mixed cure model, the rangs of age was 45-65 years old and BMI were significant.
Conclusion: When the population is divided into two groups (susceptible and non- susceptible individuals), using Cox semi-parametric model is not appropriate. Therefore, we should use cure models.
Nushin Rezaee Vandchali, Mojtaba Fathi, Ali Koolivand, Sheida Malekafzali, Farideh Jalali Mashayekhi,
Volume 19, Issue 10 (1-2017)
Abstract
Abstract
Background: Human exposure to air pollution is associated with an increased risk of diseases such as heart failure, asthma and cancer. It has been suggested that oxidative stress is involved in air pollution-induced disorders. Recently, γ-glutamyltransferase (GGT) is known as a marker of oxidative stress. This study was aimed to evaluate the effect of exposure to outdoor air pollution on enzyme activity of GGT and also usage of GGT serum level as a marker for studying of harmful effects of air pollution in the resident with high air pollution level.
Materials and Methods: In this analytical cross-sectional study, 110 healthy adult men, never-smoking, who worked in an area with high air pollution and 90 men who worked in an area with low air pollution, as control group, were enrolled. All subjects were in the age range of 25-45 years with minimum work history of three years. The GGT activity in the serum samples was determined using a spectrophotometric method.
Results: Our results showed that the serum levels of GGT in the subjects in the areas with high air pollution (33.92 ± 1.61 U/L) did not differ significantly with those of control region (33.62 ± 1.74 U/L).
Conclusion: Overall, this study did not support the hypothesis that GGT enzyme could be considered as an oxidative stress marker following exposure to outdoor air pollution. Further studies with a larger sample sizes and also trials in other areas are required to confirm these results.
Fatemeh Samimi, Maryam Baazm, Ebrahim Eftekhar, Farideh Jalali Mashayekh,
Volume 22, Issue 4 (9-2019)
Abstract
Background and Aim Oxidative stress is the main factor in the development and progression of diabetes and its related complications. There is growing evidence that antioxidants supplementation can improve oxidative stress induced in diabetes. The present investigation was conducted to study the effects of Coenzyme Q10 (CoQ10) on the Oxidative Stress Index (OSI) in diabetic rats.
Methods and Materials A total of 30 male rats were divided into five groups: saline, sesame oil (as a vehicle), CoQ10-treated (10 mg/kg/day), diabetic (induced with streptozotocin: 55 mg/kg), and CoQ10-treated diabetic (10 mg/kg/d). Then, we measured the Malondialdehyde (MDA), Total Oxidant Status (TOS), and Total Antioxidant Capacity (TAC) levels in the rats’ liver homogenate. Additionally, the OSI was calculated.
Ethical Considerations The Research Ethics Committee of Arak University of Medical Sciences approved this study (Code: IR.ARAKMU.REC.1397.119).
Results results showed a significant decrease in the level of liver MDA (P=0.022), TOS (P=0.03), and OSI (P=0.028) in the CoQ10-treated diabetic group compared to the diabetic rats. No significant change was observed in the total thiol group (P=0.25) and TAC (P=0.77) level in diabetic rats’ livers treated with CoQ10 compared to diabetic rats.
Forough Khodadadnejad, Majid Akbari, Fateme Abdolalian, Mahboube Daneshvar, Behzad Ahmadi, Zahra Zahraei,
Volume 24, Issue 3 (August & September 2021)
Abstract
Background and Aim: The success of endodontic treatment depends on the complete elimination of pathogenic bacteria inside the root canal. Enterococcus faecalis, a gram-positive, pathogenic, and anaerobic cocci, are the primary etiology of root canal infection in treated and untreated teeth and are highly associated with endodontic treatment failure. This study aimed to compare the antimicrobial activity of Sodium hypochlorite 2.5%, microemulsion of Myrtus 10%, and microemulsion of Thyme 0.6% on the E. faecalis after root canal filling.
Methods & Materials: In this experimental study, 25 extracted single canal human anterior teeth were collected, and their crowns were cut. Then after washing and cleaning, and filling, the sterilization was done using an autoclave. Then, except 5 teeth (negative control group), the teeth were smeared with E. faecalis and then divided into 5 groups randomly represented the irrigation by Sodium hypochlorite 2.5%, microemulsion of Myrtus 10%, and microemulsion of Thyme 0.6%, with a positive control group and negative control group. The teeth were filled with gutta-percha and then incubated in an incubator for 90 days at a temperature of 37°C. Finally, the comparison of CFU in the groups due to abnormal data distribution was performed using the Kruskal-Wallis test.
Ethical Considerations: The Ethics Committee of Arak University of Medical Sciences approved this study (Code: IR.ARAKMU.REC.1398.297).
Results: According to the results of this study, the correlation between the groups of cultured teeth was not significant(P>0.05). The specimens washed with microemulsion of the Thyme 0.6% had the highest positive number of cultures; the specimens washed by Sodium hypochlorite 2.5% had the lowest number of cultures.
Conclusion: This study showed that no statistically significant difference exists in their antimicrobial activity after root canal therapy after the use of different wash solutions.
Fatemeh Samimi, Reza Azizi, Farideh Jalali Mashayekhi,
Volume 24, Issue 5 (December & January 2021)
Abstract
Coronavirus disease-19 (COVID-19) is a new member of the coronavirus family causing acute respiratory infection. Patients with COVID-19 have a higher risk of developing oxidative stress during this infection. Moreover, the virus induces ROS production that activates cellular pathways for viral replication.
Nuclear factor erythroid 2-related factor (Nrf2) is a crucial transcription factor in cellular antioxidant defense by mediating Virus-induced oxidative stress and ROS production. This article suggests that an Nrf2 activator may be beneficial in preventing oxidative stress development in COVID-19 patients. Coronaviruses are a significant group of viruses that cause different illnesses in humans and animals. These illnesses can range from the common cold to more severe diseases such as SARS (Severe acute respiratory syndrome), Middle East Respiratory Syndrome (MERS), and COVID-19. COVID-19 is a new viral disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).
The main symptoms of COVID-19-infected patients are fever, dry cough, fatigue, and sometimes respiratory problems such as shortness of breath, sore throat, and infection [1].
Parto Hekmatpou, Parnian Hekmatpou, Farideh Jalali Mashayekhi, Sahar Bayat, Milad Gholami,
Volume 28, Issue 1 (3-2025)
Abstract
Introduction: Oculocutaneous Albinism is a hereditary disease with an autosomal recessive pattern. The incidence of this disease is about 1 in every 17 thousand births. Most of the affected people in Iran are the result of consanguineous marriages. White hair, fair skin, and reduction of iris pigments are the main manifestations of this disease. Also, exposure to sunlight increases the susceptibility of these patients to skin cancer. This study aimed to investigate the genetic cause of a person with Oculocutaneous Albinism by whole exome sequencing.
Methods: A 6cc peripheral blood sample was obtained from a child with oculocutaneous Albinism with an autosomal recessive inheritance pattern. DNA extraction and whole exome sequencing were performed. After analyzing the exome sequencing data, the pathogenic mutation was identified. Then, the Sanger sequencing method was used to confirm and segregate.
Results: The affected case showed homozygous pathogenic mutation (NM_000372.5): c.286dupA p.(Met96AsnfsTer73) in exon 1 of the TYR gene. Oculocutaneous albinism IA was determined according to the mutated gene. Also, the parents of the affected person were heterozygous for the mutation.
Conclusions: The mutation causing oculocutaneous albinism was identified in the affected person using the high-efficiency whole exome sequencing method and then confirming the mutation through Sanger sequencing. Considering the parents' consanguineous marriage of the parents, this finding can be used for preventive measures in the future.