摘要
目的对已生育过眼皮肤白化病Ⅰ型(oculocutaneousalbinismtypeⅠ,OCA1)患儿的两个家系进行酪氨酸酶(tyrosinase,TYR)基因TYR的突变研究和产前基因诊断。方法应用PCR技术扩增TYR基因各外显子、外显子内含子交界区及启动子区,直接以DNA序列测定技术分析先证者或其父母的基因突变,明确致病性突变后,检测胎儿TYR基因相应位点的DNA序列,获知胎儿的基因型。结果家系1的先证者为R278X和929insC突变复合杂合子;胎儿未获得这2种突变等位基因,基因型和表型均正常。家系2先证者的父母分别为IVS4+3A→T和G253E突变的杂合子,胎儿只获得了父源性的IVS4+3A→T突变等位基因,未获得母源性G253E突变等位基因,胎儿为表型正常的致病基因携带者。结论此为中国大陆首次真正意义上的OCA1产前基因诊断;应用上述基因分析方法进行OCA1产前基因诊断是可行的。
Objective Mutation analysis and prenatal gene diagnosis for the mutated tyrosinase （TYR） gene in two families with oculocutaneous albinism type Ⅰ （OCA1）. Methods To define the fetus genotypes and gene mutation sites, the PCR and sequencing techniques were applied to amplify and analyze the regions of exon, exon-intron and prorooter of TYR gene in probands and their parents of 2 families. Results The patient or proband of family 1 showed as a compound heterozygote with mutants R278X and 929insC. However, the fetus did not get any one of the two mutations, and so was with a normal genotype and phenotype. The parents of proband in family 2 were heterozygous with IVS4 ＋ 3A→T or G253E respectively, but their fetus was heterozygous only with IVS4 ＋ 3A→T but without G253E, and so was a carrier as his father.Conclusion In the mainland of China, the prenatal gene diagnosis of OCA1 is reported for the fwst time.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2006年第3期280-282,共3页
Chinese Journal of Medical Genetics
基金
广东省自然科学基金(04009328)
广州市科技局应用基础研究计划(2004J10112)
广东省医学科研基金(A2005345)~~
关键词
眼皮肤白化病Ⅰ型
基因突变
产前诊断
albinism
oculocutaneous albinism type Ⅰ
gene mutation
prenatal diagnosis
