Homozygous osteogenesis imperfecta unlinked to collagen I genes

In a consanguineous pedigree in which a severe type of osteogenesis imperfecta was segregating as an autosomal recessive trait, analysis of genetic markers for both collagen I structural loci COL1A1 and COL1A2 showed that the phenotype was unlinked to either locus.

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Bibliographische Detailangaben
Veröffentlicht in:	Human genetics 1988-03, Vol.78 (3), p.233-236
Hauptverfasser:	AITCHISON, K, OGILVIE, D, HONEYMAN, M, THOMPSON, E, SYKES, B
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Collagen - genetics Consanguinity Diseases of the osteoarticular system Genetic Linkage Genetic Markers Homozygote Humans Infant, Newborn Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Osteogenesis Imperfecta - diagnostic imaging Osteogenesis Imperfecta - genetics Pedigree Phenotype Polymorphism, Restriction Fragment Length Radiography
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Beschreibung
Zusammenfassung:	In a consanguineous pedigree in which a severe type of osteogenesis imperfecta was segregating as an autosomal recessive trait, analysis of genetic markers for both collagen I structural loci COL1A1 and COL1A2 showed that the phenotype was unlinked to either locus.
ISSN:	0340-6717 1432-1203
DOI:	10.1007/BF00291667