DYSKERATOSIS-CONGENITA - 3 ADDITIONAL FAMILIES SHOW LINKAGE TO A LOCUS IN XQ28

被引：32

作者：

ARNGRIMSSON, R

DOKAL, I

LUZZATTO, L

CONNOR, JM

机构：

[1] DUNCAN GUTHRIE INST MED GENET,GLASGOW G3 8SJ,SCOTLAND

[2] HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,DEPT HAEMATOL,LONDON W12 0NN,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1993年 / 30卷 / 07期

关键词：

D O I：

10.1136/jmg.30.7.618

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Dyskeratosis congenita (DC) is a rare inherited disorder with most families being of the X linked recessive type. We describe three families which show linkage to the marker DXS52 on Xq28. The combined maximum lod score was 2.00 at zero recombination. This is further evidence that the X linked DC gene is located at Xq28 and brings the reported maximum lod score for DC and DXS52 to 5.33 at zero recombination fraction, with a supporting recombination fraction interval of 0.00-0.10.

引用

页码：618 / 619

页数：2

共 14 条

[1] PSORALEN-DNA CROSS-LINKING PHOTOADDUCTS IN DYSKERATOSIS CONGENITA - DELAY IN EXCISION AND PROMOTION OF SISTER CHROMATID EXCHANGE [J].