| 一例婴儿型多囊肾病胎儿的HNF1B基因新发变异分析CSCD |
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| 引用本文： | 张艳曾丽娜林荔董娴.一例婴儿型多囊肾病胎儿的HNF1B基因新发变异分析CSCD[J].中华医学遗传学杂志,2022(2):205-208. |
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| 作者姓名： | 张艳曾丽娜林荔董娴 |
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| 作者单位： | 1.莆田学院附属医院产前诊断中心351100; |
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| 基金项目： | 福建省中青年教师教育科研项目(JAT200536)；莆田学院校内科研项目(2019099)。 |
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| 摘 要： | 目的对一例婴儿型多囊肾病胎儿的HNF1B基因变异进行分析, 明确其致病原因。方法收集引产胎儿的新鲜组织及其父母外周静脉血样, 提取基因组DNA, 进行全外显子测序分析, 筛查出与临床表型相关的变异位点, 并通过Sanger测序进行位点验证。结果胎儿组织样本中检测到HNF1B基因的一个c.1370C>T(p.P457L) 杂合变异, 其父母为正常。该变异经检索相关数据库及文献均未见报道为新变异。结论 HNF1B基因的c.1370C>T新发杂合变异可能为婴儿型多囊肾的致病原因。本研究结果为该病的遗传咨询和临床产前诊断提供了依据。
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| 关 键 词： | 婴儿型多囊肾病 HNF1B基因 全外显子测序 Sanger测序 |
Analysis of HNF1B gene variant in a fetus featuring infantile polycystic kidney diseaseCSCD |
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| Institution: | 1.Center of Prenatal Diagnosis, Affiliated Hospital of Putian College, Fujian, Putian351100; |
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| Abstract: | Objective To explore the genetic basis for a fetus featuring infantile polycystic kidney disease (IPKD). Methods Following elective abortion, fetal tissue and peripheral blood samples of its parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out to detect potential variants correlated with the phenotype. Results The fetus was found to harbor a heterozygous c. 1370OT (p. P457L) variant of the HNF1B gene, which was unreported previously. The same variant was not detected in either parent. Conclusion The heterozygous c. 1370OT (p. P457L) variant of the HNF1B gene probably underlay the IPKE) in this ietus. Above finding has enabled genetic counseling and prenatal diagnosis for the family. © 2022 West China University of Medical Sciences. All rights reserved. |
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| Keywords: | HNF1B gene Infantile polycystic kidney disease Sanger sequencing Whole exome sequencing |
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