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PMID: 1689954 Published · ppublish English Journal Article

Allele frequencies and segregation of human polymorphic keratins K4 and K5.

American journal of human genetics ·Vol. 46 ·No. 3 ·1990-03-00 ·Pages 548-52

Mischke D, Wille G, Wild AG

Abstract

Two electrophoretic variants for each of the human keratins K4 and K5 that are expressed in squamous nonkeratinizing epithelia lining the upper digestive tract could be distinguished on SDS-PAGE. Based on a sampling size of 1,299 unrelated individuals, calculation of allele frequencies showed the alleles to be in Hardy-Weinberg equilibrium. The genetic basis of this variation was confirmed by both quantitative gene dosage dependence and the transmission of the variants as Mendelian traits in two families. Thus the human keratin genes K4 and K5 are polymorphic, and each presents with two codominant alleles (a and b).

MeSH Terms
Alleles Electrophoresis, Polyacrylamide Gel Epithelium/analysis Female Gene Frequency Humans Immunoblotting Keratins/analysis,genetics Male Palatine Tonsil/analysis Pedigree Polymorphism, Genetic
Chemicals
Keratins
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Mischke D
Laboratorium für Biochemie der Hals-Nasen-Ohren-Klinik, Universitätsklinikum Rudolf Virchow, Freie Universität Berlin, Federal Republic of Germany.
Wille G
Wild A G
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1990-03-00
Pages
548-52
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1683635
Subset
IM
External Links
PubMed source PMC Full Text View journal details
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