A1型短指症的一个基因座定位于2号染色体的q35 - q36区域。
A locus for brachydactyly type A-1 maps to chromosome 2q35-q36.
作者信息
Yang X, She C, Guo J, Yu A C, Lu Y, Shi X, Feng G, He L
机构信息
Shanghai Institute of Physiology, Chinese Academy of Sciences, Shanghai, China.
出版信息
Am J Hum Genet. 2000 Mar;66(3):892-903. doi: 10.1086/302806.
Brachydactyly type A-1 (BDA1) was, in 1903, the first recorded example of a human anomaly with Mendelian autosomal dominant inheritance. Two large families, the affected members of which were radiographed, were recruited in the study we describe here. Two-point linkage analysis for pedigree 1 (maximum LOD score [Zmax] 6.59 at recombination fraction [theta] 0.00) and for pedigree 2 (Zmax=5.53 at straight theta=0.00) mapped the locus for BDA1 in the two families to chromosome 2q. Haplotype analysis of pedigree 1 confined the locus for family 1 within an interval of <8.1 cM flanked by markers D2S2248 and D2S360, which was mapped to chromosome 2q35-q36 on the cytogenetic map. Haplotype analysis of pedigree 2 confined the locus for family 2 within an interval of <28. 8 cM flanked by markers GATA30E06 and D2S427, which was localized to chromosome 2q35-q37. The two families had no identical haplotype within the defined region, which suggests that the two families were not related.
1903年，A-1型短指症（BDA1）成为首个有记录的遵循孟德尔常染色体显性遗传的人类异常病例。我们在本文所述研究中招募了两个大家族，对其患病成员进行了X光摄影。对家系1进行两点连锁分析（重组率[θ]为0.00时，最大对数优势分数[Zmax]为6.59），对家系2进行两点连锁分析（θ为0.00时，Zmax = 5.53），将这两个家族中BDA1的基因座定位到2号染色体长臂。对家系1的单倍型分析将家族1的基因座限定在由标记D2S2248和D2S360侧翼的小于8.1厘摩的区间内，该区间在细胞遗传学图谱上定位于2号染色体长臂35区至36区。对家系2的单倍型分析将家族2的基因座限定在由标记GATA30E06和D2S427侧翼的小于28.8厘摩的区间内，该区间定位于2号染色体长臂35区至37区。这两个家族在定义区域内没有相同的单倍型，这表明这两个家族没有亲缘关系。
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