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Literature DB >> 2987104

Two new polymorphic markers in the human pro alpha 2(1) collagen gene.

D K Brebner, A F Grobler-Rabie, A J Bester, C G Mathew, C D Boyd.

Abstract

Structural defects in the human type 1 collagen genes are known to be the cause of several inherited disorders of connective tissue, such as osteogenesis imperfecta. The analysis and prenatal diagnosis of these disorders would be facilitated by establishing a set of polymorphic markers at these gene loci. We have previously reported the presence of an Msp 1 restriction fragment length polymorphism in the pro alpha 2 (1) collagen genes of several Southern African populations (Grobler-Rabie et al., in press). This report describes the detection of a Bgl II and an EcoRI polymorphism in the pro alpha 2 gene of South African Blacks.

Entities: Disease Species

Mesh：

Substances：

Year: 1985 PMID： 2987104 DOI： 10.1007/bf00389452

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

17 in total

Review 1. Heritable diseases of collagen.

Authors: D J Prockop; K I Kivirikko
Journal: N Engl J Med Date: 1984-08-09 Impact factor: 91.245

2. Localization of the human 2(I) collagen gene (COL1A2) to chromosome 7q22.

Authors: A S Henderson; J C Myers; F Ramirez
Journal: Cytogenet Cell Genet Date: 1983

3. Strategies for detecting and characterizing restriction fragment length polymorphisms (RFLP's).

Authors: M H Skolnick; R White
Journal: Cytogenet Cell Genet Date: 1982

4. Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta.

Authors: W J de Wet; T Pihlajaniemi; J Myers; T E Kelly; D J Prockop
Journal: J Biol Chem Date: 1983-06-25 Impact factor: 5.157

5. Evolution of the hemoglobin S and C genes in world populations.

Authors: Y W Kan; A M Dozy
Journal: Science Date: 1980-07-18 Impact factor: 47.728

6. Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons.

Authors: M L Chu; W de Wet; M Bernard; J F Ding; M Morabito; J Myers; C Williams; F Ramirez
Journal: Nature Date: 1984 Jul 26-Aug 1 Impact factor: 49.962

7. Human type I procollagen genes are located on different chromosomes.

Authors: C Huerre; C Junien; D Weil; M L Chu; M Morabito; N Van Cong; J C Myers; C Foubert; M S Gross; D J Prockop; A Boué; J C Kaplan; A de la Chapelle; F Ramirez
Journal: Proc Natl Acad Sci U S A Date: 1982-11 Impact factor: 11.205

8. Structure of a cDNA for the pro alpha 2 chain of human type I procollagen. Comparison with chick cDNA for pro alpha 2(I) identifies structurally conserved features of the protein and the gene.

Authors: M P Bernard; J C Myers; M L Chu; F Ramirez; E F Eikenberry; D J Prockop
Journal: Biochemistry Date: 1983-03-01 Impact factor: 3.162

9. On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the black population of South Africa.

Authors: P Beighton; G A Versfeld
Journal: Clin Genet Date: 1985-04 Impact factor: 4.438

10. Cloning a cDNA for the pro-alpha 2 chain of human type I collagen.

Authors: J C Myers; M L Chu; S H Faro; W J Clark; D J Prockop; F Ramirez
Journal: Proc Natl Acad Sci U S A Date: 1981-06 Impact factor: 11.205

8 in total

Review 1. Comparative map for mice and humans.

Authors: J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M R Kosowsky; T H Roderick
Journal: Mamm Genome Date: 1992 Impact factor: 2.957

Review 2. Comparative map for mice and humans.

Authors: J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M Kosowsky; T H Roderick
Journal: Mamm Genome Date: 1991 Impact factor: 2.957

3. DNA-polymorphism of type I collagen gene detected with Bgl II in the genetically isolated Finnish population.

Authors: H Ahti; A Palotie; L Peltonen; F Ramirez
Journal: Hum Genet Date: 1987-01 Impact factor: 4.132

Review 4. Prenatal diagnosis and prevention of inherited abnormalities of collagen.

Authors: F M Pope; S C Daw; P Narcisi; A R Richards; A C Nicholls
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

Review 5. Genetic markers on chromosome 7.

Authors: L C Tsui
Journal: J Med Genet Date: 1988-05 Impact factor: 6.318