A Common Protamine 1 Promoter Polymorphism (−190 C→A) Correlates With Abnormal Sperm Morphology and Increased Protamine P1/P2 Ratio in Infertile Patients

• DOI: 10.2164/jandrol.107.004390
• Publication Date: 2008-09-02T17:53:37Z
• Authors: Cristina Gázquez; Josep Oriola; Sara de Mateo; José M. Vidal‐Tab...; José Luis Ballescà; Rafael Oliva
• Keywords: Adult; Male; DNA Mutational Analysis; Middle Aged; Polymorphism, Single Nucleotide; Spermatozoa; Cohort Studies; 03 medical and health sciences; 0302 clinical medicine; Humans; Female; Protamines; Promoter Regions, Genetic; Infertility, Male; Polymorphism, Restriction Fragment Length

It is known that targeting the protamine 1 gene in mice leads to infertility, abnormal chromatin packaging, and sperm morphology. Because many infertile patients also have an morphology human (PRM1) important candidate screen for potential mutations. In this work, we screened PRM1 search of mutations determined ratio between 2 (P1/P2 ratio). Direct sequencing promoter led identification a common single-nucleotide polymorphism (SNP; -190 C-->A). The AA genotype was detected at higher frequency (13.8%) with markedly altered (<or=9% normal forms) compared other (4.5%; P < .05) or controls (2.97%; .005). allelic C-->A change consistently (.331) population (.178; .01). Additionally, P1/P2 significantly increased CA CC genotypes (P = .006, Mann-Whitney). These findings indicate identified associated head patients.