Absence of a single repeat from the coding region of the human involucrin gene leading to RFLP.
The human involucrin gene has been mapped to the region q21-q22 of chromosome 1. Three of six Utah families examined were polymorphic for a PstI fragment of the involucrin gene. In one individual, the variant PstI fragment was found by DNA sequencing to be missing one of the 39 repeats that make up two-thirds of the coding region.
Simon
M
M
Department of Cellular and Molecular Physiology, Harvard Medical School, Boston, MA 02115.
Phillips
M
M
Green
H
H
Stroh
H
H
Glatt
K
K
Burns
G
G
Latt
S A
SA
D000483:Alleles; D000818:Animals; D002878:Chromosomes, Human, Pair 1; D003062:Codon; D006224:Cricetinae; D006801:Humans; D006822:Hybrid Cells; D008969:Molecular Sequence Data; D012150:Polymorphism, Restriction Fragment Length; D011498:Protein Precursors / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D015183:Restriction Mapping
D003062:Codon; D011498:Protein Precursors; C032253:involucrin