四个小说突变thiazide-sensitive Na-Cl co-transporter基因在日本Gitelman综合征患者。
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Maki N, Komatsuda,老年群体H, Ohtani H, Kigawa, Aiba N, Hamai K, Motegi M,山口,Imai H,泽田师傅K
四个小说突变thiazide-sensitive Na-Cl co-transporter基因在日本Gitelman综合征患者。
Nephrol拨移植。2004年7月,19 (7):1761 - 6。Epub 2004年4月6日。
- PubMed ID
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15069170 (在PubMed]
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背景:Gitelman综合征(GS)是一种常染色体隐性障碍造成灭活突变thiazide-sensitive Na-Cl co-transporter (NCCT)基因。到今天为止,大约90突变已确定。可能有一个特定人群分布的突变。在这项研究中,我们分析了NCCT基因的突变的七个日本GS患者。方法:患者外周血单核细胞被隔绝GS、他们的家人和健康对照组。基因进行突变分析NCCT完全通过直接DNA自动测序聚合酶链reaction-amplified产品。患者的删除或剪切位点突变,我们进行了cDNA序列分析。结果:我们确定了9个突变。其中五(c。185 c > T (Thr60Met), c。1712C>T (Ala569Val), c.1930C>T (Arg642Cys), c.2552T>A (Leu849His) and c.1932delC] have been reported in Japanese patients, but not in GS patients from other ethnic groups. The remaining four mutations [c.7A>T (Met1Leu), c.1181_1186+20del26, c.1811_1812delAT and IVS16+1G>A] were novel. In cDNA derived from a patient with c.1181_1186+20del26, a deletion of exon 9 and a frameshift at the start of exon 10 were observed. In cDNA derived from patients with IVS16+1G>A, an additional 96 bp insertion between exons 16 and 17 was observed. Six out of seven patients were compound heterozygotes, and the remaining one carried a single heterozygous mutation. CONCLUSIONS: We found four novel mutations in the NCCT gene in seven Japanese patients with GS. Moreover, our study suggests that the distribution of mutations in the NCCT gene in Japanese GS patients potentially differs from that in other populations.