CA repeat polymorphism of the COL6A3 gene on chromosome 2q37

Human Heredity

Volumn 48, Issue 4, 1998, Pages 235-236

  Pan, Te Cheng ^a   Zhang, Rui Zhit ^a   Speer, Marcy C ^c   Chu, Mon Li ^a,b  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

CA repeat polymorphism; Chromosome 2q37, human; COL6A3 gene; Collagen, type VI

Indexed keywords

COLLAGEN TYPE 6;

ALLELE; ARTICLE; CAUCASIAN; CHROMOSOME 2Q; DINUCLEOTIDE REPEAT; GENE FREQUENCY; GENETIC POLYMORPHISM; HUMAN; INTRON;

ALLELES; CHROMOSOMES, HUMAN, PAIR 2; COLLAGEN; COLLAGEN DISEASES; DINUCLEOTIDE REPEATS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; HUMANS; POLYMORPHISM, GENETIC;

EID: 0031950022     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022808     Document Type: Article

References (6)

1. Weil D, Mattei MG, Passage E, N'Guyen VC, Pribula-Conway D, Mann K, Deutzmann R, Timpl R, Chu ML: Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen. Am J Hum Genet 1988;42: 435-445.
2. Jobsis GJ, Keizers H, Vreijling JP, de Visser M, Speer MC, Wolterman RA, Baas F, Bolhuis PA: Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet 1996;14:113-115.
3. Speer MC, Tandan R, Rao PN, Fries T, Stajich JM, Bolhuis PA, Jobsis GJ, Vance JM, Viles KD, Sheffield K, James C, Kahler SG, Pettenati M, Gilbert JR, Denton PH, Yamaoka LH, Pericak-Vance MA: Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. Hum Mol Genet 1996;5:1043-1046.
4. Comeglio P, Saitta B, Pepe G, Chu ML: Identification of a polymorphic CA repeat in the COL6A2 gene on human chromosome 21q22.3. Hum Hered 1996;46:239-240.
5. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning: A Laboratory Manual, ed 2. Cold Spring Harbor, Cold Spring Harbor Laboratory, 1989.
6. Chu ML, Zhang RZ, Pan TC, Stokes D, Conway D, Kuo HJ, Glanville R, Mayer U, Mann K, Deutzmann R, Timpl R: Mosaic structure of globular domains in the human type VI collagen α3 chain: Similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors, EMBO J 1990;9:385-393.