LOCALIZATION OF CHARCOT-MARIE-TOOTH DISEASE TYPE-1A (CMT1A) TO CHROMOSOME 17P11.2

被引:76
作者
VANCE, JM
BARKER, D
YAMAOKA, LH
STAJICH, JM
LOPREST, L
HUNG, WY
FISCHBECK, K
ROSES, AD
PERICAKVANCE, MA
机构
[1] UNIV UTAH,SALT LAKE CITY,UT 84108
[2] UNIV PENN,DEPT NEUROL,PHILADELPHIA,PA 19104
关键词
D O I
10.1016/0888-7543(91)90355-I
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Charcot-Marie-Tooth (CMT) disease type 1a has been previously localized to chromosome 17 using the markers D17S58 and D17S71. In that report we were unable to provide unequivocal localization of the CMT1A gene on either the proximal p or the q arm. Therefore, data from one additional CMT1A family and typing of other probes spanning the pericentromeric region of chromosome 17 (D17S73, D17S58, D17S122, D17S125, D17S124) were analyzed. Multipoint analysis demonstrates convincing evidence (log likelihood difference > 5) that the CMT1A gene lies within 17p11.2 and most likely between the flanking markers D17S122 and D17S124. © 1991.
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页码:623 / 628
页数:6
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