中肢发育不全坎塔普特拉型的致病基因定位于2号染色体的2q24 - q32区域。

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

作者信息

Fujimoto M, Kantaputra P N, Ikegawa S, Fukushima Y, Sonta S, Matsuo M, Ishida T, Matsumoto T, Kondo S, Tomita H, Deng H X, D'urso M, Rinaldi M M, Ventruto V, Takagi T, Nakamura Y, Niikawa N

机构信息

Department of Human Genetics, Nagasaki University School of Medicine, Japan.

出版信息

J Hum Genet. 1998;43(1):32-6. doi: 10.1007/s100380050033.

DOI:10.1007/s100380050033

PMID:9609995

Abstract

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 (theta = 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.

摘要

坎塔普特拉型中肢发育不全（MDK）（MIM *156232）是一种新的常染色体显性骨骼发育不良，其特征为侏儒症、前臂/小腿缩短、腕骨/跗骨融合以及足背外侧偏斜。我们研究了一个泰裔家族，该家族三代中的15名成员患有MDK。参照先前报道的一个患有类似MDK骨骼发育不良的意大利家族患者的平衡易位[t(2;8)(q31;p21)]断点，在这个泰裔家族中使用50个定位到易位断点附近区域（2q22-q34和8p24-p21）的CA重复标记进行了连锁分析。结果明确排除了MDK与8p24-p21区域标记位点的连锁关系，而所有可用于研究的9名患病成员在2q24-q32区域的四个位点（D2S2284、D2S326、D2S2188和D2S2314）共享一个单倍型，该区域跨度约为22.7 cM。计算机辅助两点连锁分析显示，这些位点的最大对数优势（lod）分数分别为4.82、4.21、4.82和4.21（θ = 0）。这些数据表明，MDK基因座位于最有可能定位到2q24-q32的D2S2284和D2S2188基因座附近。