Haplotype analysis of the fragile X syndrome gene FMR1 in the Czech Republic

Pekařík, Vladimír; Blažková, Michaela; Kozák, Libor

doi:10.1002/(sici)1096-8628(19990528)84:3<214::aid-ajmg9>3.3.co;2-1

Cited by 9 publications

(14 citation statements)

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“…Similar findings, albeit with slightly different frequencies, have been reported from Sweden [27], Czech Republic [28], Finland [30], France [16], Croatia [25], Russia [31], Norway [32] and Poland [29]. In contrast, our finding with respect to the most common allele in FXS patients (allele 2, RF = 0.909) was in agreement with only one of the analyses (Polish population, allele 2; Swedish population, alleles 7 and 6; Czech population, alleles 2, 6 and 7; French population, alleles 2, 6 and 7; Finnish population, almost exclusively allele 6; Croatian population, alleles 7, 6 and 3; Norwegian population, alleles 6 and 2).…”

Section: Discussionsupporting

confidence: 88%

“…Allele 5+ was the most common allele at this locus in our control group, detected at a RF of 0.467. This finding was not replicated in other populations: Finnish, allele 3 [30]; Swedish, Czech and French, allele 4+ [16,26,28]; Polish, alleles 7 and 7+ [29]. The prevalent allele in our FXS patients was allele 4.…”

Section: Discussioncontrasting

confidence: 78%

“…Analysis of this locus in control chromosomes of a Czech population revealed allele 3 to be the most common allele [28]. This was also the case in populations from Russia [31] Norway [32] and Croatia [25], while alleles 3 and 4 were prevalent in a Polish population [29].…”

Section: Discussionmentioning

confidence: 79%

“…Grey zone alleles with a long uninterrupted CGG tract at the 3' end associated with this haplotype have a higher likelihood of increasing the number of CGG repeats, leading to premutation or mutation over generations. Several studies have identified specific haplotypes associated with FXS patients and normal CGG repeat alleles across European populations [22,[25][26][27][28][29]. However, only a limited number of these studies focused on populations from Eastern and Northeastern Europe.…”

Section: Discussionmentioning

confidence: 99%

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FMR1 Linked haplotype analysis in a mentally retarded male population

Daneberga¹,

Pronina²,

Lāce

et al. 2011

Open Medicine

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AbstractFragile X syndrome is caused by dynamic mutation of FMR1 gene CpG island CGG repeats. The underlying mutational mechanism is not fully understood. Different microsatellite markers and SNP have previously been reported as markers associated with FMR1 CGG repeat instability. The aim of the present study was to identify specific haplotypes among Latvian FXS patients and the control group with respect to allelic stability. Eleven male FXS patients and 122 control male patients participated in the study. In total, 27 different DXS548-FRAXAC1-ATL1-FRAXAC2 haplotypes were found. The prevalent haplotype in the control group was 7-4-A-5+ (rel. frequency 0.327). The prevalent haplotype associated with the FXS group was 2-2-G-4 (rel. frequency 0.818; p < 0.0001). Grey zone alleles with a long uninterrupted CGG tract at the 3’ end were significantly associated with the 2-2-G-4 haplotype (p = 0.0022). Our findings suggest that, for the Latvian population, the haplotype 2-2-G-4 is a marker of CGG tract instability. We conclude that a founder effect could not be an explanation for our findings on the basis of heterogeneity exhibited by the Latvian population and lack of studies throughout this geographical region. This data may provide evidence of different mutational pathways of expansion in the Baltic States region.

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Section: Discussionsupporting

confidence: 88%

Section: Discussioncontrasting

confidence: 78%

Section: Discussionmentioning

confidence: 79%

Section: Discussionmentioning

confidence: 99%

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FMR1 Linked haplotype analysis in a mentally retarded male population

Daneberga¹,

Pronina²,

Lāce

et al. 2011

Open Medicine

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“…The frequency distribution of the DXS548 alleles was compared with the data from other populations (Chakraborty et al, 2008;Daneberga et al, 2011;Đokic et al, 2008;Drozd et al, 2003b;Felix-López et al, 2006;Haataja et al, 1994;Larsen et al, 2001;Malmgren et al, 1993;Mingroni-Netto et al, 2002;Oudet et al, 1993;Pekarik et al, 1999). Allele 40 at the DXS548 locus was the most common allele (0.69) in the Iranian population which was similar (with slightly different frequencies) to those have been reported from Latvia, Russia, Sweden, Finland, France, Norway, Croatia, Mexico, Brazil, India and Czech Republic.…”

Section: Pairing Of Locussupporting

confidence: 59%

DXS998–DXS548–FRAXAC1 represents a novel informative haplotype at the FMR1 locus in the Iranian population

Shirani

Vallian

2015

Gene

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Haplotype analysis at the FRAXA locus in Thai subjects

et al. 2001

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The prevalence of fragile X syndrome (FXS) is approximately 7% in Thai boys with developmental delay of unknown cause. To determine if FXS might have a specific haplotype association, we analyzed 125 unrelated control subjects and 25 unrelated FXS patients using 3 microsatellites, DXS548, FRAXAC1 and FRAXE, and two single nucleotide polymorphisms, ATL1 and IVS10. FRAXAC1 and DXS548 are located approximately 7 kb and approximately 150 kb proximal to the CGG-FMR1 whereas ATL1, IVS10 and FRAXE are located approximately 5.6 kb, approximately 24.5 kb and approximately 600 kb distal to the CGG-FMR1. We found 40 haplotypes in the control group and 14 haplotypes in the FXS group. Of 14 haplotypes in the FXS group, 6 haplotypes were not found in the control group suggesting possible new mutations or admixture of immigrant haplotypes. We observed that most diverse haplotypes came from different FRAXE alleles. For this reason, we analyzed haplotypes composed from the remaining markers alone (DXS548-FRAXAC1-ATL1-IVS10). We found 2 major haplotypes (20-18-G-T and 20-19-A-C) with no significant haplotype differences between the control group (67/125 of 20-18-G-T and 25/125 of 20-19-A-C) and FXS group (16/25 of 20-18-G-T and 6/25 of 20-19-A-C). The other haplotypes found were 33/125 in the control group and 3/25 in the FXS group. The two major haplotypes associated FXS in Thai subjects were the two most common haplotypes in the normal Thai subjects. We could not prove, therefore, that there were founder effects at the FRAXA locus in Thailand. We could not, however, exclude it completely. These findings apparently contrast with most other reports on FXS founder effects in various ethnic groups.

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Haplotype analysis of the fragile X syndrome gene FMR1 in the Czech Republic

Cited by 9 publications

References 0 publications

FMR1 Linked haplotype analysis in a mentally retarded male population

FMR1 Linked haplotype analysis in a mentally retarded male population

DXS998–DXS548–FRAXAC1 represents a novel informative haplotype at the FMR1 locus in the Iranian population

Haplotype analysis at the FRAXA locus in Thai subjects

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