Multilocus analysis of the fragile X syndrome

Brown, W. Ted; Gross, A; Chan, Catherine B.; Jenkins, Edmund C.; Mandel, Jean‐Louis; Oberlé, I.; Arveiler, Benoı̂t; Novelli, Giuseppe; Thibodeau, Stephen N.; Hagerman, Randi J; Summers, Kim M.; Turner, Gillian; White, Bradley N.; Mulligan, Lois M.; Forster-Gibson, Cynthia; Holden, Jeanette J. A.; Zoll, Barbara; Krawczak, Michael; Goonewardena, P.; Gustavson, K.-H.; Pettersson, Ulf; Holmgren, Gösta; Schwartz, Charles E.; Howard‐Peebles, Patricia N.; Murphy, Patricia D.; Breg, W. Roy; Veenema, H; Carpenter, Nancy J.

doi:10.1007/bf00291662

Cited by 48 publications

(14 citation statements)

References 27 publications

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“…The pooled linkage data give for F9-FRAXA (Zmax = 23.42, 0 = 0.2) and for DXS52-FRAXA (Zmax = 41.05, 0 = 0.15). Evidence for linkage heterogeneity for the interval F9-FRAXA has been presented (Brown WT et al 1985;.and.appears confirmed by a large collaborative study involving the analysis of 147 families (Brown WT et al 1988). 30% of the families show very tight linkage between F9 and FRAXA ( less than or equal to 0.05) while remaining show loose linkage ( greater than or equal to 0.30).…”

Section: Family Studiesmentioning

confidence: 72%

Report of the committee on the genetic constitution of the X and Y chromosomes

Davies¹,

Mandel²,

Weissenbach³

et al. 1987

Cytogenet Genome Res

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Section: Family Studiesmentioning

confidence: 72%

Report of the committee on the genetic constitution of the X and Y chromosomes

Davies¹,

Mandel²,

Weissenbach³

et al. 1987

Cytogenet Genome Res

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“…Ott, New York (19911. The genetic distances between the loci were extracted from the literature or as reported at the "X-linked mental retardation 4" meeting in New York 1989 [Brown et al, 1988;Dahl et al, 1989;Hofker et al, 1987;Schnur et al, 1989;Oberlg et al , 1991b;Glass et al, 1991;van Oost et al, 1991;Oostra et al, 19911. The recombination fractions used were: DXSlOS - …”

Section: Cytogenetic Analysismentioning

confidence: 99%

Prenatal diagnosis and carrier detection in fragile X

Koskull¹,

Nordström²,

Salonen³

et al. 1992

Am. J. Med. Genet.

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Prenatal diagnosis was performed in 81 cases at risk for the fragile X syndrome. There were 12 fra(X)-positive cases, two of which showed low expression in cultured amniotic fluid cells. FUdR and high thymidine were used for induction of fra(X) (q27.3) expression in all cases. In 21 cases linkage studies were performed, 7 with probes for the loci DXS52, DXS98 and DXS105, 13 with probes for DXS369 and DXS296, DXS304 or DXS374 and one with the probe Do33 for DXS465. In 11 of these cases linkage analysis gave risk figures higher than 95% or lower than 5%, all in concordance with the cytogenetic findings. Discordance was found in three cases studied earlier, the two cases with low expression mentioned above and one cytogenetically normal case, which were now restudied with the new probes. RFLP-studies and linkage analysis was also performed for 24 cytogenetically fra(X)-negative females having a 50%, 25% or 12.5% risk of being carriers according to pedigree data. In 15 cases the risk dropped to 1% or less. Six of these women were pregnant and had asked for prenatal diagnosis but after genetic counseling prenatal diagnosis was avoided.

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“…A high frequency of recombination between the disease locus and a group of distal markers compared to the recombination between the markers themselves has been reported [Goonewardena et al, 1986[Goonewardena et al, , 1987Brown et al, 1988a;Davies et al, 1988;Heilig et al, 1988;Mulley et al, 19881. Genetic linkage heterogeneity for proximal markers has been reported [Brown et al, 19871.…”

Section: Introductionmentioning

confidence: 98%

Linkage analysis of the fragile X syndrome using a new DNA marker U6.2 defining locus DXS304

et al. 1991

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A new RFLP marker U6.2 defining the locus DXS304 was recently mapped to the distal long arm of the X chromosome. In the present study we report the results of genetic linkage analysis of 13 fragile X [fra(X)] families that were informative for the new marker. Analysis of the recombinants for F9-FRAXA, DXS105-FRAXA, DXS98-FRAXA, DXS52-FRAXA, DXS15-FRAXA, and F8C-FRAXA, places DXS304 distal and near to the FRAXA locus. Combined with results from previous studies, our results support the order Xcen.-F9-DXS105-DXS98-FRAXA-DXS304-DXS5 2-DXS15-F8C-Xqter. Close linkage was observed between DXS304 and the disease locus with a peak lod score of 5.12 at theta = 0.04 from the present study and, with a peak lod score of 17.45 at theta = 0.035 when our data are combined with published data from 2 other studies. The present study confirms that U6.2 is useful for prenatal diagnosis and carrier testing in families affected by fra(X) syndrome.

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Multilocus analysis of the fragile X syndrome

Cited by 48 publications

References 27 publications

Report of the committee on the genetic constitution of the X and Y chromosomes

Report of the committee on the genetic constitution of the X and Y chromosomes

Prenatal diagnosis and carrier detection in fragile X

Linkage analysis of the fragile X syndrome using a new DNA marker U6.2 defining locus DXS304

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