Characterization of new PCR based markers for mapping and diagnosis: AC dinucleotide repeat markers at the DXS237 (GMGX9) and DXS102 (cX38.1) loci.
Genomic insert DNAs from 45 probes representing 113.4 kb of the X chromosome were screened for AC dinucleotide repeat sequence. Two new AC repeat sequences were identified with length polymorphism based on variation in repeat copy number. One at DXS237 exhibits 44% heterozygosity and is potentially useful for rapid diagnosis and mapping of X-linked disorders in Xp22.3. The other, at DXS102 in Xq26, has 71% heterozygosity. This marker will improve accuracy of diagnoses by linkage for families with Börjeson-Forssman-Lehmann syndrome. Review of the literature has identified 31 PCR based markers on the X chromosome, with minimum heterozygosity of 50%, applicable to the mapping and diagnosis of X-linked disorders.
Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, South Australia.
A K
AK
Gedeon
K
K
Holman
R I
RI
Richards
J C
JC
Mulley
D001483:Base Sequence; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012091:Repetitive Sequences, Nucleic Acid; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D014960:X Chromosome
D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA