[Mapping the gene responsible for Smith-Fineman-Myers syndrome to Xq25].
OBJECTIVE
To map and eventually identify the gene responsible for Smith-Fineman-Myers syndrome.


METHODS
The short tandem repeat markers(STRs) distributed on X chromosome at 8-10cM interval were used in the initial mapping to look for the candidate region for Smith-Fineman-Myers syndrome locus and the linked marker. The additional STRs flanking the linked marker were tested to confirm the candidate region and decide the interval of disease gene.


RESULTS
Thirteen DNA samples from a Chinese family with Smith-Fineman-Myers syndrome were genotyped using 20 polymorphic STRs which cover the whole X chromosome. Of 20 STRs, DXS1001 on Xq25 suggested linkage and yielded a lod score of 3.01 at straight theta = 0 additional STRs flanking DXS1001 were tested. Fourteen polymorphic STRs out of 27 confirmed that Smith-Fineman-Myers syndrome locus is linked to several markers on Xq25. Haplotype analysis placed the disease locus within a 14.6cM interval bounded by DXS8064 and DXS8050.


CONCLUSIONS
The gene responsible for Smith-Fineman-Myers syndrome is mapped to a 14.6cM interval between DXS8064 and DXS8050 on Xq25. This result will be helpful for the identification of disease gene.
Gong
Y
Y
Department of Medical Genetics, Shandong Medical University, Jinan, Shandong, 250012 P.R. China. yaoqing@hotmail.com
Wei
J
J
Shao
C
C
Guo
Y
Y
Chen
B
B
Guo
C
C
Warman
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D002874:Chromosome Mapping; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013577:Syndrome; D020080:Tandem Repeat Sequences; D014960:X Chromosome