Mutational analysis of the biglycan gene excludes it as a candidate for x-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti

Journal Article · Sun May 01 04:00:00 EDT 1994 · American Journal of Human Genetics; (United States)

OSTI ID:6975830

Das, S; Metzenberg, A; Gitschier, J ^[1]; Pai, G S ^[2]

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1. Univ. of California, San Francisco, CA (United States)
2. Medical Univ. of South Carolina, Charleston, SC (United States)

Biglycan is a small proteoglycan expressed mainly in cells of connective tissue, including chondrocytes, ostocytes, epithelial cells, and endothelial cells. The biglycan cDNA is 1,685 bp long. The biglycan gene was amplified in six segments by using nested PCR. Primers were synthesized to amplify exons 2-8 of the biglycan gene. Exon 1 was not amplified, as it consists entirely of 5[prime] untranslated sequence. Each exon was separately amplified, except for exons 5-7, which, because of their small size, were amplified in two segments and were subjected to SSCP analysis. Results indicate the presence of two different haplotypes for exon 2 and three different haplotypes for exon 4. Further SSCP analysis of control samples from nine females and one male confirmed that the exon 2 and exon 4 haplotypes consist of polymorphisms, rather than of mutations that specifically affect this patient population. Our results support recently described work that proposes that the biglycan gene may not be involved in X-linked dominant chondrodysplasia punctata. The absence of mutations in the biglycan gene in X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti suggest it is highly unlikely that mutations in this gene are responsible for any of these disorders.

• OSTI ID: 6975830
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 54:5; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ANIMAL TISSUES
BODY
CHROMOSOMES
CONNECTIVE TISSUE
DISEASES
GENE MUTATIONS
GLYCOPROTEINS
HEREDITARY DISEASES
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HUMAN X CHROMOSOME
MUTATIONS
NEOPLASMS
ORGANIC COMPOUNDS
PROTEINS
SKIN DISEASES
TISSUES
X CHROMOSOME