X连锁隐性遗传性肾上腺脑白质营养不良家系遗传学分析  

Genetic analysis for an X-linked adrenoleukodystrophy family

作　　者：吕雪[1] 李涛[2] 刘红彦[3] 李昊[4] LYU Xue;LI Tao;LIU Hongyan;LI Hao(Department of Health Management,Henan Provincial People′s Hospital,Zhengzhou,Henan 450003,China;Medical Laboratory,Central China Fuwai Hospital of Zhengzhou University,Zhengzhou,Henan 451478,China;Medical Genetic Institute,Henan Provincial People′s Hospital,Zhengzhou,Henan 450003,China;Department of Cadre Health Manage Center,Henan Provincial People′s Hospital,Zhengzhou,Henan 450003,China)

机构地区：[1]河南省人民医院健康管理科,郑州450003 [2]郑州大学华中阜外医院检验科,郑州451478 [3]河南省人民医院医学遗传研究所,郑州450003 [4]河南省人民医院干部保健部,郑州450003

出　　处：《重庆医学》2020年第11期1750-1753,1758,共5页Chongqing medicine

基　　金：河南省医学科技攻关计划项目(2018020390);河南省科技攻关计划项目(162102310294);河南省卫生计生科技英才海外研修工程项目(2018151)。

摘　　要：目的对X连锁隐性遗传性肾上腺脑白质营养不良(X-ALD)家系进行基因诊断及产前诊断,为临床遗传咨询提供依据。方法利用PCR-外显子测序分析家系先证者ABCD1基因突变,然后检测100名健康男性ABCD1基因在患者突变位点的碱基序列以排除多态性,同时PCR-外显子测序分析家系成员ABCD1基因该突变位点的碱基序列,明确家系X-ALD携带者,并对携带者进行产前诊断。结果先证者ABCD1基因存在c.796位G>A突变,使ABCD1基因第266位密码子由甘氨酸密码子GGG突变为精氨酸密码子AGG。100名健康男性、先证者父亲、哥哥及其妹妹此位点未见该突变,先证者母亲及其姐姐此位点为杂合突变。双胎中胎儿1标本SRY阳性,ABCD1基因c.796位未见突变,胎儿2标本SRY阴性,ABCD1基因c.796位G>A杂合突变。结论明确了该X-ALD家系ABCD1基因的致病性突变,为该家系双胞胎胎儿提供X-ALD产前诊断。Objective To conduct genetic diagnosis and prenatal diagnosis for a X-linked adrenoleukodystrophy(X-ALD)family,to provide a basis for clinical genetic counseling.Methods Potential mutation of ABCD1 gene was analyzed in the family proband,suspected mutation was identified in 100 healthy males to eliminate polymorphism.At the same time,PCR-exon sequencing was performed on the base sequence of the ABCD1 gene mutation site,to identify the X-ALD carriers in the family.Prenatal diagnosis was performed on the carriers.Results Sequence analysis showed that there was a c.796 site G>A mutation of ABCD1 gene in the family proband,which has replaced the 266th glycine codon(GGG)to arginine codon(AGG).The same mutation did not be found in 100 healthy males,the proband′s father,elder brother and little sister,but the proband′s mother and sister had the heterozygous mutation.Upon prenatal diagnosis,the fetus 1 was a male and did not harbor the same mutation,fetus 2 was a female and carried the c.796 site G>A heterozygous mutation of ABCD1 gene.Conclusion The pathogenic mutation of the ABCD1 gene in the X-ALD family was clarified,and X-ALD prenatal diagnosis was provided for the family.

关 键 词：肾上腺脑白质营养不良 ABCD1基因 基因诊断 产前诊断 

分 类 号：R394-33[医药卫生—医学遗传学]