1A型遗传性运动感觉神经病与17号染色体的连锁关系。
Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17.
作者信息
Vance J M, Nicholson G A, Yamaoka L H, Stajich J, Stewart C S, Speer M C, Hung W Y, Roses A D, Barker D, Pericak-Vance M A
机构信息
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710.
出版信息
Exp Neurol. 1989 May;104(2):186-9. doi: 10.1016/s0014-4886(89)80013-5.
Charcot-Marie-Tooth disease Type 1 (CMT) is an inherited neuropathy with known genetic heterogeneity, with at least one autosomal dominant form (CMT Type 1b) linked to the Duffy region of chromosome 1. Autosomal dominant families not demonstrating linkage to the Duffy blood group marker have been designated CMT Type 1a. We report linkage of six CMT Type 1a families to the chromosome 17 markers EW301 (D17S58) and pA10-41 (D17S71) with maximum LOD scores of zeta = 10.49 at theta (maximum recombination fraction) = 0.05 and zeta = 7.36 at theta = 0.06, respectively.
1型夏科-马里-图思病（CMT）是一种具有已知遗传异质性的遗传性神经病变，至少有一种常染色体显性形式（1b型CMT）与1号染色体的达菲区域相关联。未显示与达菲血型标记连锁的常染色体显性家族被指定为1a型CMT。我们报告了6个1a型CMT家族与17号染色体标记EW301（D17S58）和pA10 - 41（D17S71）的连锁情况，在θ（最大重组率）= 0.05时最大对数优势分数ζ = 10.49，在θ = 0.06时ζ = 7.36。
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