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Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux

机译:四个荷兰大家庭膀胱输尿管反流的14个候选基因和基因座的连锁研究

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摘要

Vesico-ureteral reflux (VUR) is a major contributing factor to end-stage renal disease in paediatric patients. Primary VUR is a familial disorder, but little is known about its genetic causes. To investigate the involvement of 12 functional candidate genes and two reported loci in VUR, we performed a linkage study in four large, Dutch, multi-generational families with multiple affected individuals. We were unable to detect linkage to any of the genes and loci and could exclude the GDNF, RET, SLIT2, SPRY1, PAX2, AGTR2, UPK1A and UPK3A genes and the 1p13 and 20p13 loci from linkage to VUR. Our results provide further evidence that there appears to be genetic heterogeneity in VUR.Electronic supplementary materialThe online version of this article (doi:10.1007/s00467-007-0492-4) contains supplementary material, which is available to authorized users.
机译:膀胱输尿管反流(VUR)是导致小儿患者终末期肾脏疾病的主要因素。原发性VUR是家族性疾病,但对其遗传原因知之甚少。为了调查VUR中12个功能候选基因和2个报告基因座的参与,我们在四个大型荷兰多代家庭中,有多个受影响的个体进行了连锁研究。我们无法检测到与任何基因和基因座的连锁,因此可以排除GDNF,RET,SLIT2,SPRY1,PAX2,AGTR2,UPK1A和UPK3A基因以及1p13和20p13基因座与VUR的连锁。我们的研究结果提供了进一步的证据,表明VUR中似乎存在遗传异质性。

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