CHROMOSOME 1 CHARCOT-MARIE-TOOTH DISEASE (CMT1B) LOCUS IN THE FC-GAMMA RECEPTOR GENE REGION

被引：69

作者：

LEBO, RV

CHANCE, PF

DYCK, PJ

REDILAFLORES, MT

LYNCH, ED

GOLBUS, MS

BIRD, TD

KING, MC

ANDERSON, LA

HALL, J

WIEGANT, J

JIANG, Z

DAZIN, PF

PUNNETT, HH

SCHONBERG, SA

MOORE, K

SHULL, MM

GENDLER, S

HURKO, O

LOVELACE, RE

LATOV, N

TROFATTER, J

CONNEALLY, M

机构：

[1] UNIV CALIF SAN FRANCISCO,DEPT GYNECOL,SAN FRANCISCO,CA 94143

[2] UNIV CALIF SAN FRANCISCO,DEPT PEDIAT,SAN FRANCISCO,CA 94143

[3] UNIV UTAH,DEPT PEDIAT,SALT LAKE CITY,UT 84112

[4] MAYO CLIN & MAYO FDN,DEPT NEUROL,ROCHESTER,MN 55905

[5] UNIV WASHINGTON,DEPT NEUROL,SEATTLE,WA 98195

[6] UNIV CALIF BERKELEY,SCH PUBL HLTH,BERKELEY,CA 94720

[7] LEIDEN UNIV,DEPT HISTOCHEM & CYTOCHEM,2300 RA LEIDEN,NETHERLANDS

[8] ST CHRISTOPHERS HOSP CHILDREN,PHILADELPHIA,PA 19133

[9] ONAX INST MOLEC & CELLULAR BIOL,PALO ALTO,CA

[10] UNIV CINCINNATI,DEPT MOLEC GENET,CINCINNATI,OH 45221

[11] UNIV CINCINNATI,DEPT BIOCHEM,CINCINNATI,OH 45221

[12] UNIV CINCINNATI,DEPT MICROBIOL,CINCINNATI,OH 45221

[13] IMPERIAL CANC RES FUND,LONDON WC2A 3PX,ENGLAND

[14] JOHNS HOPKINS UNIV,DEPT NEUROCHEM,BALTIMORE,MD 21218

[15] COLUMBIA UNIV,DEPT NEUROL,NEW YORK,NY 10027

[16] INDIANA UNIV,DEPT MED GENET,INDIANAPOLIS,IN 46204

来源：

HUMAN GENETICS | 1991年 / 88卷 / 01期

关键词：

D O I：

10.1007/BF00204921

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy) loci have been reported to be on at least three chromosomes: 1 (CMT1B, HMSN1B), 17 (CMT1A), and X (CMTX). In this study multipoint linkage analysis of two Duffy-linked families given a combined LOD score of 8.65 to establish that the Duffy-linked CMT1B gene exists in the 18 centimorgan region between the antithrombin Ill gene and the Duffy/sodium-potassium ATPase loci. The simultaneous segregation of polymorphisms near the CMT1A locus on chromosome 17 excludes linkage to this chromosome region in both families. Polymorphic sites that flank the CMT1B gene have been subchromosomally localized to the proximal chromosome-1 long arm (1q21.2 --> 1q25) by spot blot analysis of sorted chromosomes, polymorphic deletion analysis, in situ hybridization, and multipoint linkage analysis.

引用

页码：1 / 12

页数：12

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