THE DUPLICATION IN CHARCOT-MARIE-TOOTH DISEASE TYPE-1A SPANS AT LEAST 1100 KB ON CHROMOSOME 17P11.2

被引：35

作者：

HOOGENDIJK, JE ^{[1
]}

HENSELS, GW ^{[1
]}

ZORN, I ^{[1
]}

VALENTIJN, L ^{[1
]}

JANSSEN, EAM ^{[1
]}

DEVISSER, M ^{[1
]}

BARKER, DF ^{[1
]}

DEVISSER, BWO ^{[1
]}

BAAS, F ^{[1
]}

BOLHUIS, PA ^{[1
]}

机构：

[1] UNIV UTAH,SCH MED,DEPT MED INFORMAT,SALT LAKE CITY,UT 84108

来源：

HUMAN GENETICS | 1991年 / 88卷 / 02期

关键词：

D O I：

10.1007/BF00206075

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Recently, it has been shown that Charcot-Marie-Tooth disease type 1a (CMT1a) is linked with a duplication of a DNA segment that is detected by probe VAW409R3, and that is located on chromosome 17p11.2. Here, we show that this duplication also contains VAW412R3a, but not A10-41 and EW503. Accounting for the duplication in recombination analysis, we found recombinants between CMT1a and EW301 and EW502, but not with A10-41, VAW409R3, and VAW412R3. Using pulsed-field gel electrophoresis analysis, we estimated the minimal size of the duplicated region in CMT1a patients to be 1100 kb.

引用

页码：215 / 218

页数：4

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