Abstract
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-DXS52-DXS15-F8C-Xqter. Close linkage was observed between DXS304 and the disease locus with a peak lod score of 5.12 at Θ = 0.04 from the present study and, with a peak lod score of 17.45 at Θ = 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.
| Original language | English |
|---|---|
| Pages (from-to) | 322-327 |
| Number of pages | 6 |
| Journal | American Journal of Medical Genetics |
| Volume | 38 |
| Issue number | 2-3 |
| DOIs | |
| Publication status | Published - 1991 |
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Keywords
- DNA markers
- genetic linkage
- RFLPs
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Linkage analysis of the fragile X syndrome using a new DNA marker U6.2 defining locus DXS304. / Goonewardena, P.; Brown, W. T.; Gross, A. C.; Ferrando, C.; Dobkin, C.; Romano, V.; Bosco, P.; Ceratto, N.; Pettersson, U.; Dahl, N.
In: American Journal of Medical Genetics, Vol. 38, No. 2-3, 1991, p. 322-327.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Linkage analysis of the fragile X syndrome using a new DNA marker U6.2 defining locus DXS304
AU - Goonewardena, P.
AU - Brown, W. T.
AU - Gross, A. C.
AU - Ferrando, C.
AU - Dobkin, C.
AU - Romano, V.
AU - Bosco, P.
AU - Ceratto, N.
AU - Pettersson, U.
AU - Dahl, N.
PY - 1991
Y1 - 1991
N2 - 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-DXS52-DXS15-F8C-Xqter. Close linkage was observed between DXS304 and the disease locus with a peak lod score of 5.12 at Θ = 0.04 from the present study and, with a peak lod score of 17.45 at Θ = 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.
AB - 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-DXS52-DXS15-F8C-Xqter. Close linkage was observed between DXS304 and the disease locus with a peak lod score of 5.12 at Θ = 0.04 from the present study and, with a peak lod score of 17.45 at Θ = 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.
KW - DNA markers
KW - genetic linkage
KW - RFLPs
UR - http://www.scopus.com/inward/record.url?scp=0026085384&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0026085384&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320380231
DO - 10.1002/ajmg.1320380231
M3 - Article
C2 - 1673305
AN - SCOPUS:0026085384
VL - 38
SP - 322
EP - 327
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 2-3
ER -