Novel mutations in the 3′ region of the polycystic kidney disease 1 (PKD1) gene

被引：11

作者：

Afzal, AR

Hand, M

Ternes-Pereira, E

Saggar-Malik, A

Taylor, R

Jeffery, S ^{[1
]}

机构：

[1] St George Hosp, Sch Med, Dept Med Genet, London SW17 0RE, England

[2] Univ Fed Santa Catarina, Clin Maternofetal, Florianopolis, SC, Brazil

来源：

HUMAN GENETICS | 1999年 / 105卷 / 06期

关键词：

D O I：

10.1007/s004390051157

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mutation screening in 90 unrelated ADPKD1 patients was carried out on some of the exons In the single copy area (37, 38, 39, 44, 45) using genomic PCR and SSCP. Four novel mutations were found: a 15 bp in-frame deletion in exon 39 [nt11449 (del 15)], a 2 bp deletion in exon 44 [nt12252 (del 2)], a G insertion in exon 44 [nt12290 (Ins G)], and a GTT in-frame deletion in exon 45 [nt12601 (del 3)].

引用

页码：648 / 653

页数：6

共 34 条

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[2] Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis [J].