Length polymorphisms in new human collagen-like loci.
Two new collagen-like loci have been identified in the human genome which have sequence similarity to the triple-helical coding region of the pro-alpha 2(I) gene. Both loci exhibit length polymorphism due to alleles that contain deletions. The deletion at one locus is 400 bp while the deletion at the second locus is 200 bp. The second locus is on chromosome 17 and its two alleles are not in Hardy-Weinberg equilibrium. These loci are candidates for involvement in connective tissue disorders.
Doering
J L
JL
Department of Biology, Loyola University of Chicago, IL 60626.
Burket
A E
AE
Vogel
L C
LC
D003094:Collagen / Q000235:genetics*; D004247:DNA / Q000097:blood / Q000302:isolation & purification; D005796:Genes; D015894:Genome, Human; D006801:Humans; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011347:Procollagen / Q000235:genetics; D015183:Restriction Mapping; D017384:Sequence Deletion
D011347:Procollagen; D003094:Collagen; D004247:DNA