The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15.
The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15.
复制标题
通过紧密连锁标记作图，Friedreich 共济失调基因被分配至染色体 9q13-q21，并显示与 D9S15 连锁不平衡。
DOI：
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发表时间：
1990
影响因子：
9.8
通讯作者：
J. Mandel
中科院分区：
文献类型：
--
作者：
A. Hanauer;M. Chéry;R. Fujita;A. Driesel;S. Gilgenkrantz;J. Mandel
Chamberlain等人已经将弗里德赖希共济失调（FA）（一种隐性神经退行性疾病）的基因定位于9号染色体，并根据与D9 S15和干扰素-β（IFNB）的连锁提出了近端短臂（9 p22-cen）的区域定位，后者定位于9 p22。我们最近在另一组家庭中证实了与D9 S15的密切联系，但发现与IFNB的联系要松散得多。我们还报道了另一个紧密连锁的标记D9 S5。现在已经研究了另外的家族，并且我们更新的lod分数对于D9 S15-FA连锁在θ = 0.00处为z = 14.30，对于D9 S5-FA连锁在θ = 0.00处为z = 6.30。结合张伯伦等人的最新数据，这表明D9 S15很可能在FA基因座的1cM内。我们在法国家系中发现FA和D9 S15 MspI RFLP之间存在非常显著的连锁不平衡（Δ Std = 0.28，χ 2 = 9.71，P <0.01），这进一步支持了这两个位点非常接近。在FA家族或Centre d 'Etude du Polymorphisme Humain家族中未发现D9 S5和D9 S15之间的重组（在θ = 0.00处z = 9.30）。因此，D9 S5、D9 S15和FA定义了紧密连锁的基因座簇。我们通过原位杂交将D9 S5定位于9 q13-q21，因此，我们将D9 S5，D9 S15和FA簇分配到9号染色体长臂的近端部分，靠近异染色质区域。
Chamberlain et al. have assigned the gene for Friedreich ataxia (FA), a recessive neurodegenerative disorder, to chromosome 9, and have proposed a regional localization in the proximal short arm (9p22-cen), on the basis of linkage to D9S15 and to interferon-beta (IFNB), the latter being localized in 9p22. We confirmed more recently the close linkage to D9S15 in another set of families but found much looser linkage to IFNB. We also reported another closely linked marker, D9S5. Additional families have now been studied, and our updated lod scores are z = 14.30 at theta = .00 for D9S15-FA linkage and z = 6.30 at theta = .00 for D9S5-FA linkage. Together with the recent data of Chamberlain et al., this shows that D9S15 is very likely within 1 cM of the FA locus. We have found very significant linkage disequilibrium (delta Std = .28, chi 2 = 9.71, P less than .01) between FA and the D9S15 MspI RFLP in French families, which further supports the very close proximity of these two loci. No recombination between D9S5 and D9S15 was found in the FA families or Centre d'Etude du Polymorphisme Humain families (z = 9.30 at theta = .00). Thus D9S5, D9S15, and FA define a cluster of tightly linked loci. We have mapped D9S5 by in situ hybridization to 9q13-q21, and, accordingly, we assign the D9S5, D9S15, and FA cluster to the proximal part of chromosome 9 long arm, close to the heterochromatic region.
9 号染色体弗里德赖希共济失调基因座的遗传同质性。
影响因子：
9.8
作者：
Chamberlain,S;Shaw,J;Wallis,J;Rowland,A;Chow,L;Farrall,M;Keats,B;Richter,A;Roy,M;Melancon,S
通讯作者：
Melancon,S