Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12
Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12
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DOI：
10.1212/wnl.46.6.1731
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发表时间：
1996-06-01
期刊：
影响因子：
9.9
通讯作者：
Pulst, SM
中科院分区：
文献类型：
--
作者：
Nechiporuk, A;LopesCendes, I;Pulst, SM
显性脊髓小脑共济失调是一组遗传异质性疾病，导致小脑和神经系统其他部分的神经元过早死亡。SCA 1突变位于人类染色体6p，SCA 3突变位于人类染色体14 q。为了进一步确定SCA 2基因在X12 q上的位置，我们在3个SCA 2家系中进行了SCAB位点与9个位点（D12 S58、D12 S78、D12 S317、D12 S330、D12 S353、D12 S84、D12 S105、D12 S79和PLA 2）之间的遗传连锁分析。SCA 2与D12 S84/D12 S105和D12 S79之间的lod值最高。利用多点连锁分析方法确定了10个多代家系中这些位点的最佳顺序和遗传距离，并建立了如下顺序：D12S101-D12S58/IGF1-D12S78-D12S317-D12S330/D12S353-D12S84/D12S105-D12S79-PLA2。利用该遗传图谱，多点连锁分析将SCA 2定位在D12 S84/D12 S105和D12 S79之间。
The dominant spinocerebellar ataxias are a genetically heterogeneous group of diseases leading to premature death of neurons in the cerebellum and other parts of the nervous system. The mutation causing SCA1 is on human chromosome (CHR) 6p and SCA3 is on CHR 14q. To refine the location of the SCA2 gene on CHR 12q, we performed genetic linkage analysis between the SCAB locus and nine loci (D12S58, D12S78, D12S317, D12S330, D12S353, D12S84, D12S105, D12S79, and PLA2) in three SCA2 families. The highest pairwise lod scores were obtained between SCA2 and D12S84/D12S105 and D12S79, We determined the best order and genetic distances among these loci in ten multigenerational families by multipoint linkage analysis and established the following order: D12S101-D12S58/IGF1-D12S78-D12S317-D12S330/D12S353-D12S84/D12S105-D12S79-PLA2. Using this genetic map, multipoint linkage analysis placed SCA2 between D12S84/D12S105 and D12S79.