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Identification of deletions in the btk gene allows unambiguous assessment of carrier status in families with X-linked agammaglobulinaemia.

作者信息

Lovering R C, Sweatman A, Genet S A, Middleton-Price H R, Vetrie D, Vorechovsky I, Bentley D, Fontan G, Español T, Morgan G

机构信息

Division of Cell and Molecular Biology, Institute of Child Health, London, UK.

出版信息

Hum Genet. 1994 Jul;94(1):77-9. doi: 10.1007/BF02272846.

DOI:10.1007/BF02272846
PMID:8034298
Abstract

Mutations within the btk gene have recently been shown to cause X-linked agammaglobulinaemia (XLA). Altered patterns of DNA restriction fragments are seen by Southern blot analysis of DNA from affected patients with deletions in the btk gene. We have identified seven affected families in which altered restriction fragments can be used to diagnose and confirm the carrier status of female relatives of affected boys and in prenatal diagnosis.

摘要

相似文献

1
Identification of deletions in the btk gene allows unambiguous assessment of carrier status in families with X-linked agammaglobulinaemia.
Hum Genet. 1994 Jul;94(1):77-9. doi: 10.1007/BF02272846.
2
Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA).布鲁顿酪氨酸激酶的Src同源结构域3内的缺失导致X连锁无丙种球蛋白血症（XLA）。
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3
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[Mutation analysis and prenatal diagnosis in families of X-linked agammaglobulinemia caused by BTK gene mutation].[BTK基因突变所致X连锁无丙种球蛋白血症家系的突变分析及产前诊断]
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引用本文的文献

1
X-linked agammaglobulinemia.X连锁无丙种球蛋白血症
Clin Rev Allergy Immunol. 2000 Oct;19(2):183-204. doi: 10.1385/CRIAI:19:2:183.

本文引用的文献

1
Genetic linkage analysis identifies new proximal and distal flanking markers for the X-linked agammaglobulinemia gene locus, refining its localization in Xq22.遗传连锁分析确定了X连锁无丙种球蛋白血症基因座新的近端和远端侧翼标记，将其定位精确到Xq22。
Hum Mol Genet. 1993 Feb;2(2):139-41. doi: 10.1093/hmg/2.2.139.
2
Linkage analysis and physical mapping near the gene for X-linked agammaglobulinemia at Xq22.位于Xq22的X连锁无丙种球蛋白血症基因附近的连锁分析和物理图谱构建
Genomics. 1993 Feb;15(2):342-9. doi: 10.1006/geno.1993.1066.
3
Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia.
人类X连锁无丙种球蛋白血症中B细胞胞质酪氨酸激酶的表达缺陷
Cell. 1993 Jan 29;72(2):279-90. doi: 10.1016/0092-8674(93)90667-f.
4
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.与X连锁无丙种球蛋白血症相关的基因是蛋白质酪氨酸激酶src家族的成员。
Nature. 1993 Jan 21;361(6409):226-33. doi: 10.1038/361226a0.
5
Genetic mapping of two loci, DXS454 and DXS458, with respect to the X-linked agammaglobulinemia gene locus.两个基因座DXS454和DXS458相对于X连锁无丙种球蛋白血症基因座的基因定位。
Hum Genet. 1994 Jan;93(1):89-90. doi: 10.1007/BF00218924.
6
Carrier determination for X-linked agammaglobulinemia using X inactivation analysis of purified B cells.
J Immunol Methods. 1993 Nov 5;166(1):111-6. doi: 10.1016/0022-1759(93)90334-4.
7
Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis.利用单链构象多态性分析检测X连锁无丙种球蛋白血症基因BTK中的突变。
Hum Mol Genet. 1994 Jan;3(1):79-83. doi: 10.1093/hmg/3.1.79.
8
Fabry disease: molecular diagnosis of hemizygotes and heterozygotes.法布里病：半合子和杂合子的分子诊断
Enzyme. 1987;38(1-4):54-64. doi: 10.1159/000469190.
9
Dinucleotide repeat polymorphism at the DXS178 locus.DXS178位点的二核苷酸重复多态性。
Hum Mol Genet. 1992 Jun;1(3):216. doi: 10.1093/hmg/1.3.216.
10
Three dinucleotide repeat polymorphisms at the DXS178 locus.DXS178基因座处的三个二核苷酸重复多态性。
Hum Mol Genet. 1992 Nov;1(8):653. doi: 10.1093/hmg/1.8.653.