
pmid: 15977791
Heterozygosity of CANP3, ACTN3, and GHR genes in specialized collections was studied using state-of-the-art DNA technologies for DNA analysis. A new dinucleotide deletion (AC) at the beginning of exon 21 was identified in five individuals with heterozygous CANP3 gene. Analysis of polymorphism (SNP1747 C-->T) of ACTN3 gene demonstrated a positive association of allele C with a high muscular performance. Real-time PCR assay of SNP1630 (A-->C) in GHR gene suggested a putative negative association of allele C of this SNP with a high muscular performance.
570, Heterozygote, genomic DNA, Molecular Sequence Data, 610, GHR gene, Muscle Proteins, DNA determination, ACTN3 gene, Polymorphism, Single Nucleotide, reverse transcription polymerase chain reaction, Gene Frequency, single nucleotide polymorphism, CANP3 gene, biochemistry, heterozygosity, Humans, controlled study, Actinin, exon, human, gene, Muscle, Skeletal, Alleles, Sequence Deletion, Base Sequence, gene deletion, muscle function, Calpain, allele, article, Isoenzymes, Carrier Proteins
570, Heterozygote, genomic DNA, Molecular Sequence Data, 610, GHR gene, Muscle Proteins, DNA determination, ACTN3 gene, Polymorphism, Single Nucleotide, reverse transcription polymerase chain reaction, Gene Frequency, single nucleotide polymorphism, CANP3 gene, biochemistry, heterozygosity, Humans, controlled study, Actinin, exon, human, gene, Muscle, Skeletal, Alleles, Sequence Deletion, Base Sequence, gene deletion, muscle function, Calpain, allele, article, Isoenzymes, Carrier Proteins
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