视网膜色素变性家系的产前分子诊断  

Prenatal molecular diagnosis of retiultis pigmentosa

作　　者：王沙燕 胡玉华 徐志勇 张阮章 黄小菊[2] 陈璐[2] 

机构地区：[1]暨南大学第二临床医学院深圳市人民医院遗传室,广东深圳518020 [2]暨南大学附属深圳眼科中心

出　　处：《中国医师杂志》2007年第9期1198-1199,1202,共3页Journal of Chinese Physician

基　　金：广东省医学科研基金资助项目（A2005616）

摘　　要：目的：对1例常染色体显性遗传视网膜色素变性家系患者所怀胎儿进行产前分子诊断。方法：应用聚合酶链反应（PCR）和直接测序技术法，对一常染色体显性遗传视网膜色素变性（ADRP）家系成员的所有现存人员的视紫红质基因的外显子进行测序分析。在采用STR位点分析方法排除母体基因组DNA污染后，应用DNA序列测定对胎儿-羊水基因组DNA进行分析。结果：该家系的25名成员中12名患者有视紫红质基因（rhodopsin，RHO）的512C〉T（P171L）突变，均呈杂合子，该错义突变使密码子171由CCA变成CTA。而未受累者的视紫红质基因表现为野生型。对该家系成员进行产前诊断，发现胎儿具有同种致病性突变。结论：视紫红质基因RHO的一种已知突变512C〉T（P171L）是该家系的病因，胎儿带P171L突变，产前诊断和早期干预能避免视网膜色素变性患儿的出生。Objective To carry out prenatal diagnosis on the fetuses of autosomal dominant retinitis pigmentosa （ADRP） pedigree. Methods A total of 25 family members from a Chinese family were recruited. The complete coding regions of （rhodopsin, RHO） were amplified by polymerase chain reaction （PCR） and the PCR products were subjected to automatic DNA sequencing. The amniotic fluid was ob- tained under the help of a clinical doctor, and the genomic DNA was isolated. Maternal DNA contamination was excluded by fluorescent STR profiling. The analysis of the amniotic fluid cells （AFC） genomic DNA of fetus was searched by DNA sequencing. Results 512C→T （P171L）, a recurrent missense mutation was detected in the proband. All 12 affected subjects in the family were heterozygous mutation. In the prenatal diagnosis for the pedigree with the P171L of rhodopsin gene, the same mutation was found in a fetus with prenatal diagnosis, and the mother was advised to end the pregnancy. Conclusion A recurrent missense mutation, 512C〉T （P171L）, was detected in a Chinese family with ADRP. The prenatal diagnosis and early intervention can prevent the birth of RP children.

关 键 词：视网膜炎 色素性/遗传学 视紫质 产前诊断 

分 类 号：R77[医药卫生—眼科] R714[医药卫生—临床医学]