X-linked nephrogenic diabetes insipidus: From the ship Hopewell to RFLP studies

摘要: Nephrogenic diabetes insipidus (NDI; designated 304800 in Mendelian Inheritance Man) is an X-linked disorder with abnormal renal and extrarenal V2 vasopressin receptor responses. The mutant gene has been mapped to Xq28 by analysis of RFLPs, tight linkage between DXS52 NDI reported. In 1969, Bode Crawford proposed, under the term "the Hopewell hypothesis," that most cases North America could be traced descendants Ulster Scots who arrived Nova Scotia 1761 on ship Hopewell. They also suggested a link this family large Mormon pedigree. DNA samples obtained from 13 independent affected families, including 42 members pedigrees, were analyzed probes region. Genealogical reconstructions performed. Linkage DXS304 (probe U6:2.spl), DXS305 (St35-691), (St14-1), DXS15 (DX13), F8C (F814) showed no recombination 12 maximum lod score 13.5 for DXS52. A recombinant DXS304, DXS305, was identified one family. haplotype segregating disease pedigree not shared other American families. PCR St14 VNTR allowed distinction two alleles distinguishable Southern analysis. Carrier status predicted 24 26 at-risk females. hypothesis cannot explain origin many since they have apparent relationship early settlers, either or genealogical We confirm locus homogeneity ethnically diverse families very useful carrier testing presymptomatic diagnosis, which can prevent first manifestations dehydration.