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Rapid Molecular Diagnosis of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency

Author: XiHui
Tutor: ZuoLingQian
School: Central South University
Course: Genetics
Keywords: 21 - hydroxylase deficiency CYP21A2 gene MLPA
CLC: R725.8
Type: Master's thesis
Year: 2011
Downloads: 66
Quote: 0
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Abstract


Objective: 21 - hydroxylase deficiency (21-Hydroxylase Deficiency ,21-OHD) is a congenital adrenal hyperplasia (Congenital Adrenal Hyperplasia, CAH) is the most common type , clinical manifestations mainly to increased androgen and cortisol , aldosterone synthesis impairment characteristics, can be divided into classic and non- classic . Classic performance to varying degrees baby girl external genitalia masculine and the emergence of low-sodium , low chlorine , hyperkalemia , if not treated early , there may be serious loss of salt crisis and death . Based on classic high morbidity and mortality , the level of serum 17 - hydroxyprogesterone ( 17 - OHP ) as the evaluation index newborn screening has been in clinical practice as a routine inspection items , but due to the presence of false negative or false positive results , the genetic diagnosis is recommended as a second-tier screening methods . 21 - OHD causative gene CYP21A2 is one of the most polymorphic human genes , genes are highly homologous between true and false , complex and diverse type of mutation , genetic diagnosis to bring a greater degree of difficulty . Therefore, this study aims to establish a fast and accurate genetic testing a clinically applicable method to provide accurate genetic diagnosis for children and their families to provide high - quality genetic counseling services . Method : five clinical diagnosis of admissions in the laboratory , CAH pedigrees and 9 ( 46 , XX ) in children with external genitalia masculine combination of multiple enzyme-linked dependent probe amplification ( Multiplex ligation - dependent probe amplification MLPA ) and the specific amplification sequenced to detect CYP21A2 gene mutation . Results : MLPA to detect four cases of heterozygosity is missing, 1 case CYP21A2/CYP21A1P open Mira , combined with sequencing clear 10 children with genotype the 1172N mutation is the most common in patients with CAH ( SV ) . Conclusion : MLPA specific amplification sequencing applications to 21 - hydroxylase deficiency fast and accurate genetic testing .

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CLC: > Medicine, health > Pediatrics > Children within the science > Pediatric endocrine diseases and metabolic diseases
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