The role of AGG interruptions in the FMR1 gene stability: A survey in ethnic groups with low and high rate of consanguinity.
Mol Genet Genomic Med
; 7(10): e00946, 2019 10.
Article
en En
| MEDLINE
| ID: mdl-31453660
ABSTRACT
BACKGROUND:
The prevalence and the role of AGG interruptions within the FMR1 gene in the normal population is unknown. In this study, we investigated the frequent of AGG loss, in one or two alleles within the normal population. The role of AGG in the FMR1 stability has been assessed by correlating AGG loss to the prevalence of premutation/full mutation in two ethnic groups differing in their consanguinity rate high versus low consanguinity rate (HCR vs. LCR).METHODS:
The CGG repeat allele size and AGG presence were measured in 6,865 and 6,204 females belonging to the LCR (5%) and HCR (>45%) groups, respectively, by Tripled-Primed-PCR technique.RESULTS:
A lower prevalence of the premutation was observed in the HCR (1158) as compared to the LCR group (1128). No full mutation was found in the HCR females while in the LCR group the prevalence found was 11,149. Homozygosity rate was higher in the HCR population compared to the LCR group.The overall AGG loss was higher in the HCR population than in the LCR and increased with increased CGG repeat number in both ethnic groups.CONCLUSIONS:
Although we observed a significantly higher rate of homozygosity and AGG loss in the HCR group, this did not affect the prevalence of the premutation and full mutation in this population. Their prevalence was significantly lower than in the LCR population. Finally, we discuss whether the loss of AGG could be also a polymorphic event but not only a stabilizing factor.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Repeticiones de Trinucleótidos
/
Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil
Tipo de estudio:
Risk_factors_studies
Límite:
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Mol Genet Genomic Med
Año:
2019
Tipo del documento:
Article
País de afiliación:
Israel