A 11 Mb YAC-Based Contig Spanning the Familial Juvenile Nephronophthisis Region (NPH1) Located on Chromosome 2q

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• 作者：Konrad ; Martin ; Saunier ; Sophie ; Silbermann ; Flora ; Benessy ; France ; Le Paslier ; Denis ; Weissenbach ; Jean ; et. al.
• 刊名：Genomics
• 出版年：1995
• 出版时间：December 10, 1995
• 年：1995
• 卷：30
• 期：3
• 页码：514-520
• 全文大小：398 K

文摘

A gene (NPH1) responsible for approximately 90 % of the purely renal form of familial juvenile nephronophthisis, a progressive tubulo-interstitial kidney disorder, maps to human chromosome 2. We report the construction of a YAC-based contig spanning the critical NPH1 region and the flanking genetic markers. This physical map was integrated with a refined genetic map that restricted the NPH1 interval to about 2 cM; this interval corresponds in a maximum physical distance of 3.5 Mb. The entire contig covers 9 cM between the loci D2S135 and D2S121. The maximum physical distance between these two markers is approximately 11.3 Mb. Forty-five sequence-tagged sites, including six genes, have been located within this contig. PAX8, a member of the human paired box gene family, that is expressed in the developing kidney, was assigned outside the restricted NPH1 critical region and cannot therefore be regarded as a candidate gene. This set of overlapping clones represents a useful resource for further targeted development of genetic markers and for the characterization of candidate genes responsible for juvenile nephronophthisis.