The gene for Aarskog syndrome is located between DXS255 and DXS566 (Xp11.2-Xq13).
Aarskog syndrome has been mapped to Xq13 on the basis of a patient carrying an Xq13:8p21.2 translocation. We have identified a new microsatellite marker in a clone mapping to this region (HX60;DXS566). Using primers flanking this microsatellite along with primers detecting a microsatellite at PGK1P1 and DXS255, and DXS72, we have performed a multipoint analysis in a large kindred with Aarskog syndrome. Our results suggest that the Aarskog locus lies proximal to Xq13. This is supported by the recent redefining of the breakpoint of the original translocation as between DXS14 (Xp11.21-p11.1) and DXS146 (Xp11.23-p11.22).
Porteous
M E
ME
Department of Human Genetics, University of Newcastle upon Tyne, United Kingdom.
Curtis
A
A
Lindsay
S
S
Williams
O
O
Goudie
D
D
Kamakari
S
S
Bhattacharya
S S
SS
D000015:Abnormalities, Multiple / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D002874:Chromosome Mapping; D004277:DNA, Single-Stranded; D005145:Face / Q000002:abnormalities; D005260:Female; D008040:Genetic Linkage; D005835:Genitalia / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013577:Syndrome; D014960:X Chromosome
D004277:DNA, Single-Stranded