Biology Faculty Articles

Title

Chromosomal Localization and Racial Distribution of the Polymorphic Human Dihydrofolate Reductase Pseudogene (DHFRP1)

Document Type

Article

Publication Date

1-1988

Publication Title

American Journal of Human Genetics

ISSN

0002-9297

Volume

42

Issue/No.

2

First Page

345

Last Page

352

Abstract

The human dihydrofolate reductase (DHFR) gene family comprises one functional gene and at least four intronless processed pseudogenes. The functional DHFR gene is on chromosome 5, and DHFRP4 is on chromosome 3. Using in situ hybridization, we have now localized the functional DHFR gene to the region q11.1-q13.3 on chromosome 5. By genomic DNA analysis of a panel of human X rodent somatic-cell hybrids, we determined the chromosomal assignment of the DHFRP1 pseudogene to chromosome 18 and that of the DHFRP2 pseudogene to chromosome 6. The DHFRP1 pseudogene exhibits a novel form of polymorphism in humans in that it is present in the DNA of some individuals and absent in that of others. We investigated the racial distribution of this pseudogene in five racial groups. The allelic frequency as defined by analysis of 180 chromosomes was found to be 94% in Mediterraneans, 77% in Asian Indians, 67% in Chinese, 57% in Southeast Asians, and 32% in American blacks. These data suggest that the transposition of this "perfect" pseudogene occurred prior to the inception of the human racial groups.

Comments

©1988 by The American Society of Human Genetics.

ORCID ID

0000-0001-7353-8301

ResearcherID

N-1726-2015

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