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Literature DB >> 3011649

Length polymorphism in the pro alpha 2(I) collagen gene: an alternative explanation in a case of Marfan syndrome.

Abstract

A 38 base pair (bp) insertion in the pro alpha 2(I) collagen gene (COL1A2) of a patient with Marfan syndrome has been proposed to be the possible cause of the disease (Henke et al. 1985). However, analysis of this insertion in DNA from the patient in question and from random normal individuals reveals it to be a common polymorphism. We suggest that the 38 bp insertion is not related to the primary defect in this case of Marfan syndrome.

Entities: Disease Gene Species

Mesh：

Substances：

Year: 1986 PMID： 3011649 DOI： 10.1007/bf00292673

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

16 in total

1. A 38 base pair insertion in the pro alpha 2(I) collagen gene of a patient with Marfan syndrome.

Authors: E Henke; M Leader; S Tajima; S Pinnell; R Kaufman
Journal: J Cell Biochem Date: 1985 Impact factor: 4.429

Review 2. The Marfan syndrome: diagnosis and management.

Authors: R E Pyeritz; V A McKusick
Journal: N Engl J Med Date: 1979-04-05 Impact factor: 91.245

3. Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene.

Authors: A F Grobler-Rabie; D K Brebner; S Vandenplas; G Wallis; R Dalgleish; R E Kaufman; A J Bester; C G Mathew; C D Boyd
Journal: J Med Genet Date: 1985-06 Impact factor: 6.318

4. The pUC plasmids, an M13mp7-derived system for insertion mutagenesis and sequencing with synthetic universal primers.

Authors: J Vieira; J Messing
Journal: Gene Date: 1982-10 Impact factor: 3.688

5. "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.

Authors: A P Feinberg; B Vogelstein
Journal: Anal Biochem Date: 1984-02 Impact factor: 3.365

6. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors: A P Feinberg; B Vogelstein
Journal: Anal Biochem Date: 1983-07-01 Impact factor: 3.365

7. Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation.

Authors: B C Sykes; D J Ogilvie; B P Wordsworth
Journal: Hum Genet Date: 1985 Impact factor: 4.132

8. Marfan syndrome: abnormal alpha 2 chain in type I collagen.

Authors: P H Byers; R C Siegel; K E Peterson; D W Rowe; K A Holbrook; L T Smith; Y H Chang; J C Fu
Journal: Proc Natl Acad Sci U S A Date: 1981-12 Impact factor: 11.205

9. Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an alpha 1(I)-like collagen.

Authors: F M Pope; K S Cheah; A C Nicholls; A B Price; F G Grosveld
Journal: Br Med J (Clin Res Ed) Date: 1984-02-11

10. Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta.

Authors: A F Grobler-Rabie; G Wallis; D K Brebner; P Beighton; A J Bester; C G Mathew
Journal: EMBO J Date: 1985-07 Impact factor: 11.598

9 in total

1. A second hypervariable RFLP within the ABR gene.

Authors: D DiSilvestre; C Morris; N Heisterkamp; J Groffen
Journal: Nucleic Acids Res Date: 1990-10-11 Impact factor: 16.971

2. PCR detection of a 38 bp length variant in the COL1A2 gene.

Authors: C J Watson; R Dalgleish
Journal: Nucleic Acids Res Date: 1990-10-11 Impact factor: 16.971

3. Marfan syndrome: absence of type I or III collagen structural defects in 25 patients.

Authors: V R Harley; D Chan; J G Rogers; W G Cole
Journal: J Inherit Metab Dis Date: 1990 Impact factor: 4.982

Review 4. Genetic markers on chromosome 7.

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