Hing A V, Helms C, Slaugh R, Burgess A, Wang J C, Herman T, Dowton S B, Donis-Keller H
Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Am J Med Genet. 1995 Aug 28;58(2):128-35. doi: 10.1002/ajmg.1320580208.
We have characterized a 6-generation North American Caucasian kindred segregating one form of preaxial polydactyly type 2 (PPD-2). We demonstrate linkage to the 7q36 region and describe a submicroscopic telomeric chromosomal deletion in phase with the PPD-2 phenotype. Recently, several kindreds segregating triphalangeal thumb (TPT) with and without associated hand anomalies (syndactyly and/or postaxial polydactyly) have also been linked to the subtelomeric region of chromosome 7q [Heutink et al., 1994: Nat Genet 6:287-291; Tsukurov et al., 1994: Nat Genet 6:282-286]. We demonstrate by haplotype analysis that our North American pedigree represents a PPD allele that is independent of the founder PPD allele present in the previously described kindreds.
我们已经对一个北美白种人6代家系进行了特征分析，该家系中分离出一种2型轴前多指（PPD-2）。我们证明了与7q36区域的连锁关系，并描述了一个与PPD-2表型处于同相的亚显微端粒染色体缺失。最近，几个分离出伴有或不伴有相关手部异常（并指和/或轴后多指）的三指节拇指（TPT）的家系也与7q染色体的亚端粒区域连锁[Heutink等人，1994年：《自然遗传学》6：287-291；Tsukurov等人，1994年：《自然遗传学》6：282-286]。我们通过单倍型分析证明，我们的北美家系代表了一个与先前描述的家系中存在的奠基者PPD等位基因无关的PPD等位基因。
