常染色体隐性遗传多囊肾病PKHD1基因检测

Detection of PKHD1 gene in autosomal recessive polycystic kidney disease

目的对1例引产的常染色体隐性遗传性多囊肾病胎儿的多囊肾/多囊肝病变1基因(PKHD1)进行基因突变鉴定和结果分析。方法采集引产胎儿及其父母外周静脉血,分别提取基因组DNA,应用PCR扩增、DNA直接测序等技术手段对该胎儿及其父母进行PKHD1基因突变分析。结果 胎儿PKHD1基因出现几种序列变异:PKHD1基因第7号内含子发生ISV7+51G>T变异;第17号外显子发生c.1587T>C(P.N529N)变异;第32号外显子发生c.3785C>T(P.A1262V)变异,导致编码PKHD1蛋白多肽链第1262号氨基酸由丙氨酸变为缬氨酸。结论 PKHD1基因序列变异可能是常染色体隐性遗传性多囊肾病的病因,PKHD1基因检测可作为产前筛查的有效诊断手段。

Objective To identify and analyze mutation in polyeystic kidney and hepatic disease 1 （ PKHD1 ） in one abortion fetus of autosomal recessive polycystic kidney disease（ARPKD）. Methods Genome DNA was extracted from peripheral venous blood sampled from the fetus and his parents. PCR amplification and DNA direct sequencing and other technical means were adopted to perform gene mutation analysis of PKHDI. Results The following I）NA sequence variations were found, ISV7 ＋ 51G 〉 T in intron 7, c. 1587T 〉 C（ p. N529N ） in exon 17, c. 3785C 〉 T（ p. A1262V） in exon 32, which caused amino acid substitution from Alanine Io Valine. Conclusion The variation of PKHDI sequence may be involved in the pathogenesis of ARPKD. The sequence analysis of PKHDI gent can be used as an effective method for prenatal diagnosis.