分类号：R714.55
出版年·卷·期（页码）：2018·10·第3期（5-9）
DOI:
10.13470/j.cnki.cjpd.2018.03.002
-----摘要：-------------------------------------------------------------------------------------------
目的 联合运用多种遗传学技术对1例Ⅲ型Bartter综合征家系进行致病突变分析和产前诊断。方法 应用高通量捕获测序技术、MLPA、PCR-Sanger 测序法对先证者进行 Bartter 综合征相关致病基因的检测及家系分析；明确遗传学病因后对已妊娠4个月的先证者母亲抽取羊水应用MLPA、PCR-Sanger 测序法进行产前诊断。结果 先证者CLCNKB基因存在c.del1389(A)纯合突变合并1-18号外显子杂合性缺失。家系分析显示这两种突变分别源自父亲和母亲。产前诊断结果显示胎儿与先证者基因型一致。结论 CLCNKB基因的c.del1389(A)纯合突变合并1-18号外显子杂合性缺失为先证者的病因, 产前诊断可以预防该家系Bartter 综合征患儿的再次出生。
-----英文摘要：---------------------------------------------------------------------------------------
Objective To analyze the pathogenic mutation and prenatal diagnosis of a family with type Ⅲ Bartter syndrome by multiple genetic techniques. Methods High throughput capture sequencing, MLPA and PCR-Sanger sequencing were applied to diagnosis and prenatal diagnosis of a family with type Ⅲ Bartter syndrome. Results There was c.del1389 (A) homozygous mutation and heterozygosity deletion of exon 1-18 in CLCNKB gene of proband. Pedigree analysis revealed that the two mutations were derived from father and mother respectively. Prenatal diagnosis showed that the fetus ’genotype was the same to the proband’s. Conclusion The c.del1389 (A) mutation of the CLCNKB gene combined with the loss of heterozygosity of exon 1-18 is the pathogeny of the proband. Prenatal diagnosis can prevent the rebirth of the children of the family Bartter syndrome.
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席惠,马娜,庞佳伦,彭莹,贾政军,王华,李浩贤.Ⅲ型Bartter综合征一家系遗传学分析和产前诊断.中国产前诊断杂志,2018,10(3):5-9.
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