Allele frequency of the G → T mutation of teh Co/1A1 gene analyzed by an ARMS-PCR in osteoporotic subjects with femoral neck fractures

Lucio Montanaro, Carla Renata Arciola

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

The allele frequency of the G→T mutation of COL1A1 gene (collagen type I α 1 gene, GenBank accession n. AF017178) was analyzed by a new ARMS-PCR method in 240 osteoporotic subjects bearing a femoral neck fracture. The method is based on the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). Normal and mutated alleles were detected by two PCRs, in which a common forward primer (positions 1307 to 1336 of the gene) and two reverse primers (positions 1566 to 1546), differing in the 3′-base (3′-C for the normal Sallele and 3′-A for the mutated s allele) are used. In the SS condition, amplification occurs only in one of the two PCRs, and in the ss condition only in the other. In the Ss condition both reactions give a product. This ARMS-PCR method avoids the use of any restriction enzyme, as described by Grant and colleagues in a previously published method based on a mismatched reverse primer which introduced a restriction site in the T-substituted (s) allele and in a method recently proposed by Vinkanharju and co-workers. In a survey for COL1A1 polymorphism in 240 osteoporotic subjects with femur fractures, here presented, a frequency of 80.6% was found for the G allele and 19.4% for the T allele. There were 66.7% dominant SS subjects, 27.9% Ss heterozygotes and 5.4% ss recessives homozygotes.

Original languageEnglish
Pages (from-to)550-553
Number of pages4
JournalClinical Chemistry and Laboratory Medicine
Volume40
Issue number6
DOIs
Publication statusPublished - 2002

Fingerprint

Femoral Neck Fractures
Gene Amplification
Polymerase chain reaction
Gene Frequency
Refractory materials
Amplification
Genes
Alleles
Polymerase Chain Reaction
Mutation
Bearings (structural)
Collagen Type I
Polymorphism
Nucleic Acid Databases
Homozygote
Heterozygote
Femur
Enzymes

Keywords

  • (amplification refractory mutation system)PCR (polymerase chain reaction)
  • ARMS
  • COL1A1 gene (collagen type 1 α 1 gene)
  • Osteoporosis

ASJC Scopus subject areas

  • Clinical Biochemistry

Cite this

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title = "Allele frequency of the G → T mutation of teh Co/1A1 gene analyzed by an ARMS-PCR in osteoporotic subjects with femoral neck fractures",
abstract = "The allele frequency of the G→T mutation of COL1A1 gene (collagen type I α 1 gene, GenBank accession n. AF017178) was analyzed by a new ARMS-PCR method in 240 osteoporotic subjects bearing a femoral neck fracture. The method is based on the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). Normal and mutated alleles were detected by two PCRs, in which a common forward primer (positions 1307 to 1336 of the gene) and two reverse primers (positions 1566 to 1546), differing in the 3′-base (3′-C for the normal Sallele and 3′-A for the mutated s allele) are used. In the SS condition, amplification occurs only in one of the two PCRs, and in the ss condition only in the other. In the Ss condition both reactions give a product. This ARMS-PCR method avoids the use of any restriction enzyme, as described by Grant and colleagues in a previously published method based on a mismatched reverse primer which introduced a restriction site in the T-substituted (s) allele and in a method recently proposed by Vinkanharju and co-workers. In a survey for COL1A1 polymorphism in 240 osteoporotic subjects with femur fractures, here presented, a frequency of 80.6{\%} was found for the G allele and 19.4{\%} for the T allele. There were 66.7{\%} dominant SS subjects, 27.9{\%} Ss heterozygotes and 5.4{\%} ss recessives homozygotes.",
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