Department of Neurology; Department of Cell Biology
Amino Acid Sequence; Chromosome Banding; Chromosome Mapping; Gene Amplification; Humans; *Linkage (Genetics); Molecular Sequence Data; Nerve Tissue Proteins; Polymerase Chain Reaction; *Repetitive Sequences, Nucleic Acid; Synapsins; X Chromosome
Cell and Developmental Biology | Cell Biology | Life Sciences | Neuroscience and Neurobiology
A compound (AC)n repeat located 1,000 bp downstream from the human synapsin I gene and within the last intron of the A-raf-1 gene has been identified. DNA data-base comparisons of the sequences surrounding the repeat indicate that the synapsin I gene and the A-raf-1 gene lie immediately adjacent to each other, in opposite orientation. PCR amplification of this synapsin I/A-raf-1 associated repeat by using total genomic DNA from members of the 40 reference pedigree families of the Centre d'Etude du Polymorphisme Humaine showed it to be highly polymorphic, with a PIC value of .84 and a minimum of eight alleles. Because the synapsin I gene has been mapped previously to the short arm of the human X chromosome at Xp11.2, linkage analysis was performed with markers on the proximal short arm of the X chromosome. The most likely gene order is DXS7SYN/ARAF1TIMPDXS255DXS146, with a relative probability of 5 x 10(8) as compared with the next most likely order. This highly informative repeat should serve as a valuable marker for disease loci mapped to the Xp11 region.
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Citation: Am J Hum Genet. 1991 Jul;49(1):184-91.
American journal of human genetics
Kirchgessner, Cordula U.; Trofatter, James A.; Mahtani, Melanie M.; Willard, Huntington F.; and DeGennaro, Louis J., "A highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: linkage mapping of the synapsin I/A-raf-1 genes" (1991). Open Access Articles. 44.