摘要
应用ＰＣＲ／ＡＳＯ探针技术检测了１２例无血缘关系的先天性肾上腺皮质增生症（ＣＡＨ）患儿的２１羟化酶功能基因Ｂ（ＣＹＰ２１－Ｂ）的ＣＤ１７２Ｉｌｅ→Ａｓｎ和ＣＤ３１８Ｇｌｎ→０两种突变类型，发现在１２例ＣＡＨ患儿中有７例携带ＣＤ１７２突变，患儿均属单纯男性化型（ＳＶ），其中１例为该突变纯合子，６例为杂合子，计算得该突变占所分析的ＣＹＰ２１－Ｂ基因总数的３３．３％（８／２４）；而ＣＤ３１８突变的发生率较低，只检出１例男性化伴失盐型（ＳＷ）患儿为此种突变基因的杂合子，为ＣＡＨ患儿的基因诊断和产前诊断提供了科学资料。
This paper reports the results of the molecular detection of CD172 Ile→Asn and CD 318 Gln→0 mutations in CYP 21-B gene in 12 unrelated Chinese congenital adrenal hyperplasia(CAH)patients by using PCR/ASO probes.The data showed that CD 172 point mutation had a higher frequency in CAH patients,accounting for 33.3%(8/24) of the total mutant alleles.Among those,one homozygote and six heterozygotes for this mutation were all found to be SV(simple virilizing)phenotype.The results also showed that the incidence of CD 318 mutation was lower and only one patient of SW(sa1twasting)type was identified to be heterozygous for this mutation.These data provide useful information for gene diagnosis and prenatal diagnosis of CAH disease.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1995年第3期156-158,共3页
Chinese Journal of Medical Genetics
基金
上海市科学基金
关键词
肾上腺皮质增生
21羟化酶
B基因
聚合酶链反应
Congenital adrenal hyperplasia,CYP 21-B gene,Polymerase cbain rection,Point mutation
