[Abnormal structure of type II collagen in a patients with funnel chest].
The electrophoretical analysis and CNBr-peptide mapping of the collagens, isolated from the costal cartilage of 30 patients with non-classified and syndromal forms of pex excavatum (funnel chest) (27 patients) and pex carinatum (3 patients) was carried out. In case of one patient with the nonclassified form of funnel chest the electrophoretical mobility of CB 9.7-peptide was found to be decreased. The electrophoretical mobilities of other peptides are not markedly changed. The data obtained allow one to suggest the mutation causing the defect in the region about 160 amino acid residues distant from the C-end of alpha 1 (II) chain of type II collagen of the patient.
D000293:Adolescent; D000595:Amino Acid Sequence; D002648:Child; D002675:Child, Preschool; D003094:Collagen / Q000032:analysis* / Q000235:genetics; D003488:Cyanogen Bromide; D005660:Funnel Chest / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009154:Mutation
D003094:Collagen; D003488:Cyanogen Bromide
Anomaliia struktury kollagena II tipa u bol'nogo s voronkoobraznoĭ deformatsieĭ grudnoĭ kletki.