ISSN:
1435-232X
Keywords:
Key words Poly A polymerase (PAP)
;
Chromosome 14q32
;
FISH
;
Radiation hybrid mapping
;
CA repeat
;
Congenital microphthalmia (CMIC)
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
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).
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s100380050154
Permalink