The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32 |
| |
| Authors: | M 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 |
| |
| Institution: | (1) Department of Human Genetics, Nagasaki University School of Medicine, 1-12-4 Sakamoto, Nagasaki 852, Japan Tel. +81-958-49-7120; Fax +81-958-49-7121 e-mail: f1144@cc.nagasaki-u.ac.jp, JP;(2) Second Department of Surgery, Nagasaki University School of Medicine, Nagasaki, Japan, JP;(3) Department of Pediatric Dentistry, School of Dentistry, Chiang Mai University, Thailand, TH;(4) Human Genome Center, Institute of Medical Science, University of Tokyo, Tokyo, Japan, JP;(5) Department of Hygiene and Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan, JP;(6) Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Japan, JP;(7) Division of Genetics, ICMR, Kobe University, Kobe, Japan, JP;(8) Department of Biological Sciences, Graduate School of Science, University of Tokyo, Tokyo, Japan, JP;(9) Department of Pediatrics, Nagasaki University School of Medicine, Nagasaki, Japan, JP;(10) Department of Plastic and Reconstructive Surgery, Nagasaki University School of Medicine, Nagasaki, Japan, JP;(11) Neurogenetic Laboratory, Department of Neurology, Northwestern University Medical School, Chicago, IL, USA, US;(12) Istituto Internazionale di Genetica e Biofisica-Area di Ricerca C.N.R., Napoli, Italy, IT;(13) Servizio di Genetica Medica Ospedale A. Cardarelli, Napoli, Italy, IT |
| |
| 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 (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.
Received: November 27, 1997 / Accepted: December 5, 1997 |
| |
| Keywords: | Mesomelic dysplasia Kantaputra type CA-repeat marker Linkage analysis Logarithm of odds (lod) score Haplotype analysis Human HOXD genes |
| 本文献已被 SpringerLink 等数据库收录！ |
|
