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在一个杂合子表现出视网膜毯反射的家系中,X连锁视网膜色素变性基因座定位于DXS7和DXS84之间。

Localization of the X-linked retinitis pigmentosa locus between DXS7 and DXS84 in a family showing tapetal reflex in heterozygotes.

作者信息

Chen J D, Halliday F, Serravalle S, Denton M

机构信息

Department of Clinical Chemistry, Prince of Wales Hospital, Randwick, NSW, Australia.

出版信息

Ophthalmic Paediatr Genet. 1988 Nov;9(3):143-7. doi: 10.3109/13816818809031490.

Abstract

The linkage relationships between the X-linked retinitis pigmentosa (XLRP) locus and seven Xp loci: DXS14, DXS7, OTC, DXS141, DXS148, DXS84 and DXS206 were analysed in one large family in which the heterozygotes exhibited the tapetal reflex. Evidence drawn from two-point and multipoint linkage analysis and a number of triply informative crossovers suggests that the XLRP locus in this family is between DXS7 and DXS84. The putative order of loci on the short arm of the X chromosome is: centromere - DXS14 - DXS7 - OTC - XLRP/DXS141 - DXS148 - DXS84 - DXS206 - telemere.

摘要

在一个杂合子表现出视网膜毯反射的大家系中,分析了X连锁视网膜色素变性(XLRP)基因座与7个Xp基因座:DXS14、DXS7、鸟氨酸转氨甲酰酶(OTC)、DXS141、DXS148、DXS84和DXS206之间的连锁关系。两点和多点连锁分析以及一些三重信息交换得出的证据表明,该家系中的XLRP基因座位于DXS7和DXS84之间。X染色体短臂上基因座的推定顺序为:着丝粒 - DXS14 - DXS7 - OTC - XLRP/DXS141 - DXS148 - DXS84 - DXS206 - 端粒。

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