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Mutation analysis of steroid 21 hydroxylase gene in a group of Egyptian children with congenital adrenal hyperplasia / Ghada Maher Mohamed Thabet ; Supervised Sahar Abdelatty Sharaf , Mona Hassan Hafez , Dina Mohamed Elabd

By: Contributor(s): Material type: TextTextLanguage: English Publication details: Cairo : Ghada Maher Mohamed Thabet , 2013Description: 128 P. : charts , facsimiles ; 25cmOther title:
  • التغييرات الجينية فى إنزيم 21 هيدروكسيلز فى مجموعة من الأطفال المصريين المصابين بتضخم الغدة الكظرية الوراثى [Added title page title]
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Dissertation note: Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology Summary: Background: Defects in the CYP21A2 gene cause steroid 21-hydroxylase deficiency, which is the most frequent cause of congenital adrenal hyperplasia (CAH). Twenty nine CAH cases, their family members and twenty control subjects were investigated to identify the mutation spectrum of the CYP21A2 gene. Objective: To determine the prevalence of common point mutations and deletion in CYP21A2 gene in a group of Egyptian patients with CAH. Methods: a. Allele specific PCR for g.659A/C>G, p.I172N variants and the 8 base pair deletion in exon 3. b. Real-time, quantitative PCR assay was used to detect deletion of the steroid 21-hydroxylase gene (CYP21A2). Results: Mutational analysis of CYP21A2 gene revealed that I2splice/I172N represented 58.6% of cases, I2splice/ I2splice 13.8%, 8 bp{u2206}/8bp{u2206} 6.9% and gene duplication 3.4%. Conclusion: The heterogenous molecular defects underlying salt wasting (SW) cases among a relatively limited number of Egyptian CAH patients calls for more extensive molecular workup on a larger sample size
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Item type Current library Home library Call number Copy number Status Date due Barcode
Thesis Thesis قاعة الرسائل الجامعية - الدور الاول المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.Ph.D.2013.Gh.M (Browse shelf(Opens below)) Not for loan 01010110063817000
CD - Rom CD - Rom مخـــزن الرســائل الجـــامعية - البدروم المكتبة المركزبة الجديدة - جامعة القاهرة Cai01.11.07.Ph.D.2013.Gh.M (Browse shelf(Opens below)) 63817.CD Not for loan 01020110063817000

Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Clinical and Chemical Pathology

Background: Defects in the CYP21A2 gene cause steroid 21-hydroxylase deficiency, which is the most frequent cause of congenital adrenal hyperplasia (CAH). Twenty nine CAH cases, their family members and twenty control subjects were investigated to identify the mutation spectrum of the CYP21A2 gene. Objective: To determine the prevalence of common point mutations and deletion in CYP21A2 gene in a group of Egyptian patients with CAH. Methods: a. Allele specific PCR for g.659A/C>G, p.I172N variants and the 8 base pair deletion in exon 3. b. Real-time, quantitative PCR assay was used to detect deletion of the steroid 21-hydroxylase gene (CYP21A2). Results: Mutational analysis of CYP21A2 gene revealed that I2splice/I172N represented 58.6% of cases, I2splice/ I2splice 13.8%, 8 bp{u2206}/8bp{u2206} 6.9% and gene duplication 3.4%. Conclusion: The heterogenous molecular defects underlying salt wasting (SW) cases among a relatively limited number of Egyptian CAH patients calls for more extensive molecular workup on a larger sample size

Issued also as CD

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