<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>The aim of this study was to estimate the prevalence of FXS in Latvia and characterise the FMR1 CGG-repeat structure in Latvian patients exhibiting mental retardation. A group of 352 unrelated patients with mental retardation (MR) referred from clinical geneticists was screened by PCR for the normal allele. In a sample of 245 chromosomes the CGG repeat number was determined by Applied Biosystems protocol on ABI Prism 310. Prevalence of 29, 30, and 31 CGG repeats was found for the normal allele. Five affected patients were detected (detection rate 2.56%). AGG interspersion pattern analysis showed stability of transmission to the next generation for 12 intermediate alleles. The found detection rate of FXS in our survey among MR patients was similar to the detection rate reported in literature. Taking into account the number of confirmed FXS cases we suggest that FXS is still clinically unrecognized in paediatrician practice.</p></abstract>

The aim of this study was to estimate the prevalence of FXS in Latvia and characterise the FMR1 CGG-repeat structure in Latvian patients exhibiting mental retardation. A group of 352 unrelated patients with mental retardation (MR) referred from clinical geneticists was screened by PCR for the normal allele. In a sample of 245 chromosomes the CGG repeat number was determined by Applied Biosystems protocol on ABI Prism 310. Prevalence of 29, 30, and 31 CGG repeats was found for the normal allele. Five affected patients were detected (detection rate 2.56%). AGG interspersion pattern analysis showed stability of transmission to the next generation for 12 intermediate alleles. The found detection rate of FXS in our survey among MR patients was similar to the detection rate reported in literature. Taking into account the number of confirmed FXS cases we suggest that FXS is still clinically unrecognized in paediatrician practice.

Fragile X Syndrome in Mentally Retarded Patients from Latvia

University Children's Hospital, Juglas 20, Rīga, LV-1079, LATVIA

Rīga Stradiņš University, Dzirciema iela 16, Rīga, LV-1007, LATVIA

Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.

{"article-title":"Fragile X Syndrome in Mentally Retarded Patients from Latvia"}

The aim of this study was to estimate the prevalence of FXS in Latvia and characterise the FMR1 CGG-repeat structure in Latvian patients exhibiting mental...

Fragile X Syndrome in Mentally Retarded Patients from Latvia

Online veröffentlicht: 08. Juli 2009

Seitenbereich: 70 - 72

DOI: https://doi.org/10.2478/v10046-009-0021-x

Schlüsselwörter
fragile X, FRAXA, FMR1, mental retardation

This content is open access.

Fragile X Syndrome in Mentally Retarded Patients from Latvia

Online veröffentlicht: 08. Juli 2009

Seitenbereich: 70 - 72

DOI: https://doi.org/10.2478/v10046-009-0021-x

Schlüsselwörterfragile X, FRAXA, FMR1, mental retardation

This content is open access.

Schlüsselwörter
fragile X, FRAXA, FMR1, mental retardation