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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 To investigate the mutation of tyrosinase (TYR) TYR and its prenatal diagnosis in two pedigrees with oculocutaneous albinism type Ⅰ (OCA1). Methods PCR technique was used to amplify TYR exon and exon intron junction region and promoter region. DNA sequencing was used to analyze the gene mutation of proband or its parents. After the pathogenic mutation was identified, Detect the DNA sequence of the corresponding site of the fetal TYR gene and obtain the genotype of the fetus. Results The probands of pedigree 1 were heterozygous heterozygous mutation of R278X and 929insC. The fetus did not obtain these two kinds of mutant alleles, and their genotypes and phenotypes were normal. Family 2 proband’s parents were IVS4 +3 A → T and G253E heterozygotes heterozygous fetus obtained only the parental IVS4 +3 A → T mutation allele, did not obtain the maternal G253E mutation allele, The fetus is a normal phenotypic carrier of the causative gene. Conclusions This is the first real OCA1 prenatal diagnosis in Mainland China. It is feasible to use the gene analysis method to diagnose OCA1 prenatal gene.