The gen for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32

Masahiro Fujimoto, Piranit Nik Kantaputra, Shiro Ikegawa, Yoshimitsu Fukushima, Shin Ichi Sonta, Masafumi Matsuo, Takafumi Ishida, Tadashi Matsumoto, Shinji Kondo, Hiroaki Tomita, Han Xiang Deng, Michele D'urso, Maria Michela Rinaldi, Valerio Ventruto, Toshihisa Takagi, Yusuke Nakamura, Norio Niikawa

研究成果: Article査読

29 被引用数 (Scopus)

抄録

Mesomelic dysplasia Kantaputra type (MDK) (MIM *156232) is a new autosomal dominant skeletal dysplasia characterized by dwarfism, shortening of the forearms/lower-legs, carpal/tarsal synostosis, and dorsolateral foot deviation. We studied a Thai family in which 15 members in 3 generations were affected with MDK. With reference to the breakpoints of a balanced translocation [t(2;8)(q31;p21)] in patients from a previously reported Italian family with a skeletal dysplasia that appears similar to MDK, a linkage analysis was performed in the Thai family using 50 CA-repeat markers mapped to nearby regions (2q22-q34 and 8p24-p21) of the translocation breakpoints. The results clearly ruled out a linkage of MDK to marker loci at the 8p24-p21 region, whereas all nine affected members available for the study shared a haplotype at four loci (D2S2284, D2S326, D2S2188, and D2S2314) spanning about 22.7 cM in the 2q24-q32 region. The computer-assisted two- point linkage analysis revealed maximum logarithm of odds (lod) scores of 4.82, 4.21, 4.82, and 4.21 (Θ = 0) at these loci, respectively. These data indicated that the MDK locus is in the vicinity of D2S2284 and D2S2188 loci that are most likely mapped to 2q24-q32.

本文言語English
ページ(範囲)32-36
ページ数5
ジャーナルJournal of Human Genetics
43
1
DOI
出版ステータスPublished - 1998
外部発表はい

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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