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Length polymorphisms in new human collagen‐like loci
Author(s) -
Doering Jeffrey L.,
Burket Anne E.,
Vogel Lawrence C.
Publication year - 1993
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/0014-5793(93)81719-g
Subject(s) - locus (genetics) , genetics , biology , allele , gene , human genome , genome
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‐α2(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.