| Autor: |
C, Sofocleous, S, Kitsiou, H, Fryssira, A, Kolialexi, M, Kalaitzidaki, E, Roma, G Th, Tsangaris, C, Chistofidou, C, Metaxotou, E, Kanavakis, A, Mavrou |
| Rok vydání: |
2008 |
| Předmět: |
|
| Zdroj: |
In vivo (Athens, Greece). 22(4) |
| ISSN: |
0258-851X |
| Popis: |
Fragile X syndrome, the second most common genetic cause of mental retardation, is due to the expansion of a trinucleotide repeat (CGG)n within the first exon of the FMR-1 gene. Molecular genetic analysis provides accurate diagnosis and facilitates genetic counselling and prenatal testing. Screening for the fragile X mutation in a sample of 3,888 individuals in Greece is reported: 1,755 children with non-specific mental retardation, 1,733 parents and other family members and 400 normal individuals. Molecular analysis allowed for the identification and characterization of 52 fragile X families confirming the clinical diagnosis in 57 males and 4 females. Sixty-six female carriers (6 mentally retarded) and 4 normal transmitting males were also identified. Four severely retarded males and their mothers carried unmethylated premutations, while a moderately retarded girl had a deletion of approximately equal to 150 bp. Overall sizing of the CGG repeat produced an allele distribution of 6-58 CGG repeats (mean 28-30), similar to that in other Caucasian populations. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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