Assignment of the human poly(A) polymerase (PAP) gene to chromosome 14q32.1-q32.2 and isolation of a polymorphic CA repeat sequence.

Abstract

We report the chromosomal localization of the gene for human poly(A) polymerase (PAP) and the characterization of a newly isolated CA repeat near the PAP locus. By fluorescence in situ hybridization and polymerase chain reaction (PCR)-based analysis with both a human/rodent monochromosomal hybrid cell panel and a radiation hybrid mapping panel, this gene was mapped on the q32.1-q32.2 region of chromosome 14. From a genomic clone containing the human PAP locus, we have isolated a polymorphic dinucleotide (CA) sequence. High heterozygosity (0.81) makes this polymorphism a useful marker in the genetic study of disorders localized at the 14q32 region, such as autosomal recessive congenital microphthalmia (CMIC).

• Authors: T Yamauchi, J Sugimoto, T Hatakeyama, S Asakawa, N Shimizu, M Isobe
• Journal: Journal of human genetics (J Hum Genet) Vol. 44 Issue 4 Pg. 253-5 ( 1999) ISSN: 1434-5161 [Print] England
• PMID: 10429366 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Genetic Markers
• Polynucleotide Adenylyltransferase

Topics

• Chromosome Mapping
• Chromosomes, Human, Pair 14
• Dinucleotide Repeats
• Genetic Markers
• Humans
• In Situ Hybridization, Fluorescence
• Physical Chromosome Mapping
• Polymorphism, Genetic
• Polynucleotide Adenylyltransferase (genetics)