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目的揭示基底细胞痣综合征中国一个家系发病的分子遗传基础,为家系中的年轻患者实行早期监测和治疗。方法首先选择家系中先证者和其患病母亲及家系中一名健康人,提取外周血 DNA,聚合酶链反应(PCR)扩增 PTCH 基因编码氨基酸的23个外显子,对扩增产物进行 DNA 测序后;采用位于9q22.3-q31区的3个微卫星 DNA 标记对该家系行遗传连锁分析。结果先证者患病母亲 PTCH 基因未发现突变;先证者(V_4)14号外显子发生同义突变;连锁分析显示,在位点D9S283、D9S1690和 D9S1677,Lod 值<-2(θ=0.00)。结论排除了 PTCH 基因作为基底细胞痣综合征该家系致病基因的可能。
Objective To reveal the molecular genetic basis of the incidence of basal cell nevus syndrome in a Chinese pedigree and to monitor and treat the younger patients in the pedigree early. Methods First select the family probands and their sick mothers and their families in a healthy person, extracted from peripheral blood DNA, polymerase chain reaction (PCR) amplified PTCH gene encoding 23 exons of amino acids, amplification products After DNA sequencing, three microsatellite DNA markers located in 9q22.3-q31 region were used for genetic linkage analysis. Results There was no mutation in the PTCH gene of the proband’s mother. Synonymous mutation of the exon 14 of proband (V_4) occurred. The linkage analysis showed that the loci D9S283, D9S1690 and D9S1677 had Lod values <-2 (θ = 0.00 ). Conclusion The possibility of PTCH gene as a causative gene of basal cell nevi syndrome was ruled out.