Novel Triplet Repeat Containing Genes in Human Brain: Cloning, Expression, and Length Polymorphisms

摘要: Human genes containing triplet repeats may markedly expand in length and cause neuropsychiatric disease, explaining the phenomenon of anticipation (increasing severity or earlier age onset successive generations a pedigree). To identify novel with repeats, we screened human brain cDNA library oligonucleotide probes CTG CCG repeats. Fourteen 40 clones encoded genes, 8 these inserts have been sequenced on both strands. All contain 5 9 more consecutive perfect are expressed brain. Chromosomal assignments reveal distribution multiple autosomes X-chromosome. Further, repeat two is highly polymorphic, making them valuable index linkage markers. We predict that many repeat-containing exist; screening probe suggests approximately 50-100 this type Since additional disorders, such as Huntington's bipolar affective disorder, possibly others, show features anticipation, suggest candidates for causing diseases.