Summary
Amplification of a variable region 3′ to the human type II collagen gene (COL2A1) has permitted segregation analysis in a three generation Stickler syndrome pedigree. This family had previously proved uninformative for the known restriction fragment length dimorphisms. Amplification of the variable region revealed five distinguishable alleles, of which three were segregating in this family. The lod score in favour of linkage was 2.86 at zero recombination.
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Francomano CA, Leiberfarb RM, Hirose T, Maumenee IH, Streeten EA, Meyers DA, Pyeritz RE (1987) The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. Genomics 1:293–296
Francomano CA, Leiberfarb RM, Hirose T, Maumenee IH, Streeten EA, Meyers DA, Pyeritz RE (1988) The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen. Pathol Immunopathol Res 7:104–106
Jarman AP, Nicholls RD, Weatherall DJ, Clegg JB, Higgs DR (1986) Molecular characterisation of a hypervariable region downstream of the human α-globin gene cluster. EMBO J 5:1857–1863
Knowlton RG, Weaver EJ, Struyk AF, Knobloch WH, King RA, Norris K, Shamban A, Uitto J, Jimenez SA, Prockop DJ (1989) Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene. Am J Hum Genet 45:681–688
Stocker NG, Cheah KSE, Griffin JR, Pope FM, Solomon E (1985) A highly polymorphic region 3′ to the human type 11 collagen gene. Nucleic Acids Res 13:4613
Sykes B (1983) A high frequency Hind III restriction site polymorphism within a collagen gene. Disease Markers 1:141–146
Sykes B, Smith R, Vipond S, Paterson C, Cheah KSE, Solomon E (1985a) Exclusion of the α1(II) cartilage collagen gene as a mutant locus in type IA osteogenesis imperfecta. J Med Genet 22:187–191
Sykes BC, Ogilvie DJ, Wordsworth BP (1985b) Lethal osteogenesis imperfecta and a collagen gene deletion; length polymorphism offers an alternative explanation. Hum Genet 70:35–37
Temple IK (1989) Stickler's syndrome. J Med Genet 26:119–126
Weaver EJ, King RA, Norris K, Knobloch WH, Shamban A, Jiminez SA, Prockop DJ, Knowlton RG (1989) (abstract). (10th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 51:1103
Wordsworth P, Ogilvie D, Priestley L, Smith R, Wynne-Davies R, Sykes B (1988) Structural and segregation analysis of the type 11 collagen gene (COL2A1) in some heritable chondrodysplasias. J Med Genet 25:521–527
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Priestley, L., Kumar, D. & Sykes, B. Amplification of the COL2A1 3′ variable region used for segregation analysis in a family with the Stickler syndrome. Hum Genet 85, 525–526 (1990). https://doi.org/10.1007/BF00194230
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DOI: https://doi.org/10.1007/BF00194230