TY - JOUR
T1 - The gen for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
AU - Fujimoto, Masahiro
AU - Kantaputra, Piranit Nik
AU - Ikegawa, Shiro
AU - Fukushima, Yoshimitsu
AU - Sonta, Shin Ichi
AU - Matsuo, Masafumi
AU - Ishida, Takafumi
AU - Matsumoto, Tadashi
AU - Kondo, Shinji
AU - Tomita, Hiroaki
AU - Deng, Han Xiang
AU - D'urso, Michele
AU - Rinaldi, Maria Michela
AU - Ventruto, Valerio
AU - Takagi, Toshihisa
AU - Nakamura, Yusuke
AU - Niikawa, Norio
N1 - Copyright:
Copyright 2005 Elsevier Science B.V., Amsterdam. All rights reserved.
PY - 1998
Y1 - 1998
N2 - 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.
AB - 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.
KW - CA-repeat marker
KW - Haplotype analysis
KW - Human HOXD genes
KW - Linkage analysis
KW - Logarithm of odds (lod) score
KW - Mesomolic dysplasia Kantaputra type
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U2 - 10.1007/s100380050033
DO - 10.1007/s100380050033
M3 - Article
C2 - 9609995
AN - SCOPUS:13144275216
VL - 43
SP - 32
EP - 36
JO - Jinrui idengaku zasshi. The Japanese journal of human genetics
JF - Jinrui idengaku zasshi. The Japanese journal of human genetics
SN - 1434-5161
IS - 1
ER -