Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1. - Suppr | 超能文献

Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1.

作者信息

Krols L, Martin J J, David G, Van Regemorter N, Benomar A, Löfgren A, Stevanin G, Dürr A, Brice A, Van Broeckhoven C

机构信息

Department of Biochemistry, Flanders Interuniversity Institute for Biotechnology (VIB), Born-Bunge Foundation (BBS), University of Antwerp (UIA), Belgium.

出版信息

Hum Genet. 1997 Feb;99(2):225-32. doi: 10.1007/s004390050344.

DOI:10.1007/s004390050344

Abstract

We have previously mapped the gene for autosomal dominant cerebellar ataxia type II (ADCAII) to chromosome 3p12-p21.1 in a region of 33 cM by using four families of different geographic origin. In this study, we analysed the families with nine additional simple tandem repeat markers located in the ADCAII candidate region. An extensive clinical evaluation was also performed in the Belgian family CA-1 on two probably affected and seven at-risk individuals by means of ophthalmological examination and magnetic resonance imaging. Based on informative recombinants, we were able to reduce the ADCAII candidate region to the 12-cM region between D3S1300 and D3S1285. Furthermore, haplotype analysis among the families suggested that the most likely location of the ADCAII gene is within the 6.2-cM interval between D3S3698 and D3S1285. Because of the documented anticipation in ADCAII families, we also analysed family CA-1 with six polymorphic triplet repeat markers located on chromosome 3. None of these markers showed expanded alleles.

摘要

相似文献

1

Refinement of the locus for autosomal dominant cerebellar ataxia type II to chromosome 3p21.1-14.1.

Hum Genet. 1997 Feb;99(2):225-32. doi: 10.1007/s004390050344.

2

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1.伴有色素性黄斑营养不良的常染色体显性遗传性小脑共济失调基因定位于3号染色体p12 - p21.1区域。

Nat Genet. 1995 May;10(1):84-8. doi: 10.1038/ng0595-84.

3

The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus.常染色体显性遗传性II型小脑共济失调基因定位于3p12 - p13的一个5厘摩区域：脊髓小脑共济失调7型（SCA7）基因座的遗传和物理图谱。

Am J Hum Genet. 1996 Dec;59(6):1328-36.

4

Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1.与视网膜变性和遗传早现相关的常染色体显性遗传性小脑共济失调定位于染色体3p12 - p21.1。

Hum Mol Genet. 1995 Aug;4(8):1441-5. doi: 10.1093/hmg/4.8.1441.

5

Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1.患有常染色体显性遗传性单纯小脑共济失调的日本家族，其致病基因定位于19号染色体短臂1区3带1亚带到1区3带2亚带（19p13.1-p13.2），并且与位于19p13.1的脊髓小脑共济失调6型基因中轻度的CAG重复序列扩展密切相关。

Am J Hum Genet. 1997 Aug;61(2):336-46. doi: 10.1086/514867.

6

Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1.常染色体显性遗传性小脑共济失调伴视网膜变性（ADCA II）：两个家系的临床和神经病理学发现以及与3p12 - p21.1的基因连锁关系

J Neurol Neurosurg Psychiatry. 1997 Apr;62(4):367-71. doi: 10.1136/jnnp.62.4.367.

7

A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan.日本16号染色体连锁的常染色体显性遗传性小脑共济失调III型候选基因位点的连锁不平衡。

J Hum Genet. 2001;46(4):167-71. doi: 10.1007/s100380170083.

8

Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type I.通过连锁分析对常染色体显性遗传性I型小脑共济失调第三个基因座（SCA3）候选区域在两个大家族中的定位进行优化。

Hum Genet. 1995 Dec;96(6):691-4. doi: 10.1007/BF00210301.

9

A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.常染色体显性遗传性I型小脑共济失调的第三个基因座定位于14号染色体q24.3 - qter：存在第四个基因座的证据。

Am J Hum Genet. 1994 Jan;54(1):11-20.

10

Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.由CAG三联体重复扩增引起的常染色体显性遗传性小脑共济失调伴视网膜变性（II型常染色体显性小脑共济失调）的分子遗传学分析

Hum Mol Genet. 1998 Feb;7(2):177-86. doi: 10.1093/hmg/7.2.177.

引用本文的文献

1

Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation.18个II型成人发作性共济失调（ADCA）家系的分子与临床研究：遗传异质性及新发突变的证据

Am J Hum Genet. 1999 Jun;64(6):1594-603. doi: 10.1086/302406.

2

Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.一种新的常染色体显性遗传性脊髓小脑共济失调基因定位于22号染色体

Am J Hum Genet. 1999 Feb;64(2):594-9. doi: 10.1086/302247.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

文档翻译

学术文献翻译模型，支持多种主流文档格式。