人类甘氨酸受体：一种与X连锁低磷血症佝偻病基因相关的新探针。

The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene.

作者信息

Econs M J, Pericak-Vance M A, Betz H, Bartlett R J, Speer M C, Drezner M K

机构信息

Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.

出版信息

Genomics. 1990 Jul;7(3):439-41. doi: 10.1016/0888-7543(90)90180-3.

DOI:10.1016/0888-7543(90)90180-3

PMID:2163973

Abstract

We undertook linkage analysis in four large North Carolina kindreds with X-linked hypophosphatemic rickets (HYP) using a newly defined polymorphic probe, derived from the 5' untranslated portion of the human glycine receptor (GLR). Two-point linkage analysis established linkage between GLR and HYP [Z(theta) = 7.91 at theta = 0.07] and confirmed linkage between HYP and DXS41 [Z(theta) = 8.31 at theta = 0.06] and DXS43 [Z(theta) = 5.94 at theta = 0.05]. Additionally, we found GLR tightly linked to DXS43 [Z(theta) = 5.40 at theta = 0.0]. Multipoint analysis indicated that GLR is on the telomeric side of HYP with a map order of Xpcen-DXS41-HYP-(GLR/DSX43).

摘要

我们使用一种新定义的多态性探针，该探针源自人类甘氨酸受体（GLR）的5'非翻译区，对北卡罗来纳州四个患有X连锁低磷血症佝偻病（HYP）的大家族进行了连锁分析。两点连锁分析确定了GLR与HYP之间的连锁关系[在θ = 0.07时，Z（θ）= 7.91]，并证实了HYP与DXS41之间的连锁关系[在θ = 0.06时，Z（θ）= 8.31]以及与DXS43之间的连锁关系[在θ = 0.05时，Z（θ）= 5.94]。此外，我们发现GLR与DXS43紧密连锁[在θ = 0.0时，Z（θ）= 5.40]。多点分析表明，GLR位于HYP的端粒侧，图谱顺序为Xpcen-DXS41-HYP-（GLR/DXS43）。