Reed D R, Ding Y, Xu W, Cather C, Price R A
Department of Psychiatry, University of Pennsylvania, Philadelphia 19104, USA.
Int J Obes Relat Metab Disord. 1995 Sep;19(9):599-603.
Prader-Willi, Bardet-Biedl, Cohen, Borjeson and Wilson-Turner syndromes are genetic disorders characterized by obesity and other diverse abnormalities. These disorders have been mapped to their respective chromosomal regions, and we hypothesize that each region contains a gene or genes important in the regulation of body weight. We tested this hypothesis by genotyping sibling pairs (n = 207; 17 markers) from 44 families who were segregating an extreme obesity phenotype but were otherwise clinically normal. The number of alleles shared between siblings from these chromosomal regions did not correlate with similarity in body mass index (kg/m2). If genes in these regions contribute to non-syndromal obesity, the prevalence is low and the corresponding alleles are rare.
普拉德-威利综合征、巴德-比德尔综合征、科恩综合征、博耶森综合征和威尔逊-特纳综合征都是以肥胖和其他各种异常为特征的遗传性疾病。这些疾病已被定位到各自的染色体区域，我们推测每个区域都包含一个或多个对体重调节很重要的基因。我们通过对44个家庭的同胞对（n = 207；17个标记）进行基因分型来检验这一假设，这些家庭正在分离一种极端肥胖表型，但在其他方面临床正常。来自这些染色体区域的同胞之间共享的等位基因数量与体重指数（kg/m²）的相似性无关。如果这些区域的基因导致非综合征性肥胖，那么其患病率较低且相应的等位基因很罕见。
