Frequencies of promoter pentanucleotide (TTTTA)n of CYP11A gene in European and North African populations.
Genet Test
; 12(1): 93-6, 2008 Mar.
Article
en En
| MEDLINE
| ID: mdl-18307388
ABSTRACT
The present work attempts to determine the distribution of CYP11A (TTTTA)n genotype and allele frequencies in 10 European and North African populations. This polymorphism has been associated with hyperandrogenism by several association studies. To our knowledge, this is the first study investigating the ethnic variation of this polymorphism. DNA was extracted from 868 whole-blood samples with the standard phenol-chloroform technique, and PCR reactions were carried out using fluorescent primers as described previously. PCR products were analyzed by an ABI 3,730 DNA Analyzer. A total of six alleles were identified, ranging from 220 bp (4 repeats [4R]) to 250 bp (10R). The most frequent allelic fragment size in all populations was 4R, with frequencies ranging from 47.9% (Sicily) to 62.8% (Tuscany and Germany). Allelic frequencies showed high heterogeneity between analyzed populations. We detected a significant gradient for alleles 4R and 8R. In this study, we report the allele frequency distribution of CYP11A (TTTTA)n showing a north-south geographic gradient. This result could be useful for epidemiological studies about hyperandrogenism.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Polimorfismo Genético
/
Enzima de Desdoblamiento de la Cadena Lateral del Colesterol
/
Regiones Promotoras Genéticas
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Repeticiones de Microsatélite
Límite:
Female
/
Humans
/
Male
País/Región como asunto:
Africa
/
Europa
Idioma:
En
Revista:
Genet Test
Asunto de la revista:
GENETICA
Año:
2008
Tipo del documento:
Article
País de afiliación:
Italia