X-LINKED RETINITIS-PIGMENTOSA - NEW MAP STUDIES OF XLRP2, AND A POSSIBLE HUMAN CENTROMERE EFFECT

被引：12

作者：

FRIEDRICH, U

WARBURG, M

KRUSE, TA

ANDREASSON, S

机构：

[1] GENTOFTE HOSP,DIV PEDIAT OPHTHALMOL,DK-2900 COPENHAGEN,DENMARK

[2] AARHUS UNIV,INST HUMAN GENET,DK-8000 AARHUS,DENMARK

[3] UNIV LUND,DEPT OPHTHALMOL,S-22101 LUND,SWEDEN

来源：

HUMAN GENETICS | 1992年 / 88卷 / 06期

关键词：

D O I：

10.1007/BF02265297

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A new large Danish family with X-linked retinitis pigmentosa was studied for linkage analysis. Carrier diagnosis was performed using full-field electro-retinogram combined with a careful fundus examination. Multipoint linkage analysis, employing DNA markers from the proximal short arm of the X chromosome and the cytogenetic centromere marker, revealed the highest location score distally to DXS255 and proximal to the ornithine carbamoyl transferase locus. ln comparison with the first Danish family that we studied, the pericentromeric recombination fraction was increased; it is speculated that the observed difference in genetic distances from the centromere in the 2 Danish families is correlated with a difference in the size and location of the centromeric heterochromatin.

引用

页码：683 / 687

页数：5

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