Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP |
| |
| Authors: | Masahiko Yamamoto Takeshi Yasuda Kiyoshi Hayasaka A Ohnishi Hiroo Yoshikawa Takehiko Yanagihara Tohru Ikegami Tatsunori Yamamoto Hirofumi Ohashi Tomoya Nishimura Terunori Mitsuma Hidenori Kiyosawa Phillip F Chance G Sobue |
| |
| Institution: | (1) CRBM–CNRS, BP 5051–1919, Route de Mende, F-34033 Montpellier cedex, France Tel.: +33-4-67-613355; Fax: +33-4-67-521559; e-mail: lory@xerxes.crbm.cnrs-mop.fr, FR;(2) SIBIA Neurosciences, Inc., 505 Coast Boulevard South, Suite 300, La Jolla, California 92037–4641, USA, US |
| |
| Abstract: | We have used human β2 and β4 cDNA probes to map the genes encoding two isoforms of the regulatory β subunit of voltage-activated
Ca2+ channels, viz. CACNB2 (β2) and CACNB4 (β4), to human chromosomes 10p12 and 2q22-q23, respectively, by fluorescence in situ
hybridization. The gene encoding the β2 protein, first described as a Lambert-Eaton myasthenic syndrome (LEMS) antigen in
humans, is found close to a region that undergoes chromosome rearrangements in small cell lung cancer, which occurs in association
with LEMS. CACNB2 (β2) and CACNB4 (β4) genes are members of the ion-channel gene superfamily and it should now be possible
to examine their loci by linkage analysis of ion-channel-related disorders. To date, no such disease-related gene has been
assigned to 10p12 and 2q22-q23.
Received: 5 February 1997 / Accepted: 4 April 1997 |
| |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ |
|
