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* To whom correspondence should be addressed. E-mail: roliva{at}ub.edu.
It is known that targeting the protamine 1 gene in mice leads to infertility, abnormal chromatin packaging and abnormal sperm morphology. Since many infertile patients also have an abnormal sperm morphology and chromatin packaging, the human protamine 1 gene (PRM1) is an important candidate to screen for potential mutations. In the present work we have screened the PRM1 gene in search for potential mutations and determined the sperm morphology and protamine P1/P2 ratio. Direct sequencing of the PRM1 promoter led to the identification of a common single nucleotide polymorphism (SNP; -190 C to A). The -190 AA genotype was detected at a higher frequency (13.8%) in patients with markedly altered sperm morphology (
9% normal forms) as compared to other patients (4.5%; P < 0.05) or as compared to controls (2.97%; P < 0.005). The allelic frequency of the PRM1 -190 C to A change was also consistently higher (0.331) in infertile patients with a markedly altered morphology as compared to population controls (0.178; P < 0.01). Additionally, we have determined that the protamine P1/P2 ratio is significantly increased in patients with the PRM1 -190 AA genotype as compared to patients with the CA or CC genotypes (P = 0.006, Mann-Whitney). These findings indicate that the common PRM1 -190 C to A polymorphism identified is associated with abnormal sperm head morphology and abnormal protamine P1/P2 ratio in infertile patients.
Key words: Infertility •
Reproductive Genetics •
Sperm •
Haplotype block •
Risk factor
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