Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.
The original family with the Allan-Herndon type of X-linked mental retardation has been investigated for linkage by using DNA probes spanning the length of the X chromosome. Available for study, over 3 generations, were 13 affected males, three obligate carriers, and three normal sons of the obligate carriers. Initial disease-to-marker analysis suggested linkage to three markers (DXYS2 [7b], DXS250 [GMGX22], and DXS3 [p19-2]) located in Xq21. All three exhibited the same maximum lod score of 2.3 at a maximum theta of .05. Multipoint analysis using LINKMAP and a set of four DNA markers (DXYS1-DXYS2-DXS3-DXS94) gave a multipoint lod score of 3.58 for a location of the Allan-Herndon syndrome near locus DXYS1 (pDP34). Therefore, our data indicate that the gene for the Allan-Herndon syndrome is likely located in Xq21.
Schwartz
C E
CE
Greenwood Genetic Center, SC 29646.
Ulmer
J
J
Brown
A
A
Pancoast
I
I
Goodman
H O
HO
Stevenson
R E
RE
D000015:Abnormalities, Multiple / Q000235:genetics*; D015342:DNA Probes; D005145:Face / Q000002:abnormalities; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008126:Lod Score; D008297:Male; D009135:Muscular Diseases / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome
D015342:DNA Probes; D005819:Genetic Markers