Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family

Mohsen Ghadami, Keyvan Majidzadeh-A, Batool Sadat Haerian, Elia Damavandi, Koki Yamada, Parvin Pasallar, Mohammad Taghi Najafi, Gen Nishimura, Hiro Aki Tomita, Koh Ichiro Yoshiura, Norio Niikawa

研究成果: Article査読

14 被引用数 (Scopus)

抄録

Syndactyly type 1 (SD1) is the most common type of syndactyly, inherited in an autosomal dominant fashion and characterized by complete or partial webbings between the third and fourth fingers and/or between the second and third toes. We recently encountered an Iranian family in which 33 members in six generations were affected with SD1. As a locus of SD1 in a German family has recently been assigned to chromosome 2q34-q36, we performed a linkage analysis of the Iranian SD1 in order to know whether the disorder is genetically homogeneous. With the analysis on 15 affected and 16 unaffected persons in the Iranian family, using dinucleotide repeat polymorphisms as markers, we mapped the SD1 locus to 2q34-q36 with a maximum LOD score of 6.92 at a recombination fraction θ = 0.00 (penetrance = 1.00) for the D2S2179 locus. The result not only confirmed the gene assignment, but also suggests genetic homogeneity of the disease.

本文言語English
ページ(範囲)147-151
ページ数5
ジャーナルAmerican journal of medical genetics
104
2
DOI
出版ステータスPublished - 2001 11 22
外部発表はい

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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