A Locus for Brachydactyly Type A-1 Maps to Chromosome 2q35-q36

• Published in: American journal of human genetics Vol. 66; no. 3; pp. 892 - 903
• Main Authors: Yang, Xinping, She, Chaowen, Guo, Jingzhi, Yu, Albert CH, Lu, Yingjin, Shi, XiaoLiu, Feng, Guoying, He, Lin
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.03.2000; University of Chicago Press; The American Society of Human Genetics
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Biological and medical sciences; Brachydactyly type A-1; Child; Child, Preschool; Chromosome Mapping; Chromosomes, Human, Pair 2 - genetics; Diseases of the osteoarticular system; Female; Fingers - abnormalities; Fingers - diagnostic imaging; Genes, Dominant - genetics; Genetic Variation - genetics; Haplotype analysis; Haplotypes - genetics; Hox genes; Humans; Linkage analysis; Lod Score; Male; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical sciences; Middle Aged; Pedigree; Phenotype; Radiography; Recombination, Genetic - genetics; Software; Toes - abnormalities; Toes - diagnostic imaging; Brachydactyly type A-1; Hox genes; Haplotype analysis; Linkage analysis; Genetic mapping; Human; Linkage; Long arm; Family study; Pathogenesis; Diseases of the osteoarticular system; Clinical form; Chromosome A2; Exploration; Congenital disease; Genetic determinism; Genetic disease; Gene; Disease of the hand; Malformation; Upper limb; Haplotype; Brachydactyly
• ISSN: 0002-9297; 1537-6605
• 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 [ Z max] 6.59 at recombination fraction [θ] 0.00) and for pedigree 2 ( Z max=5.53 at θ=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.