Erin Dietzsch, M. Iqbal Parker
Infrequent Somatic Deletion of the 5' Region of the COL1A2 Gene in Oesophageal Squamous Cell Cancer Patients
Oesophageal squamous cell cancer is the leading
cause of cancer death amongst African males in South
Africa. DNA was isolated from normal and tumour
biopsies of the oesophagi of 33 African patients with
squamous cell carcinoma of the oesophagus and was
analysed with two dinucleotide repeat polymorphisms,
a GT repeat sequence in the first intron, and a
CA repeat in the promoter of the human ?2(I) procollagen
gene (COL1A2), using the polymerase chain reaction
(PCR). Normal and tumour DNAs from each individual
were compared to identify changes present in
the tumour DNA, but absent in normal DNA. Twenty
two cases were informative (heterozygous) for the
promoter polymorphism and 24 cases were informative
for the intronic polymorphism. Loss of heterozygosity
(LOH) was seen in 2/22 (9.1%) for the promoter
and 3/24 (12.5%) for the intronic polymorphism. These
changes involved a total of three patients: two patients
displayed the lost allele incorporating both the
CA repeat and GT repeat loci; the third patient revealed
LOH at the intronic polymorphism, but was
non-informative (homozygous) for the promoter polymorphism.
Deletions within the procollagen genes
may represent an as yet unrecognised but rare event in
the multistep process of carcinogenesis.
Clinical Chemical Laboratory Medicine, Walter de Gruyter
Print ISSN: 1434-6621
Volume: 40, 09/2002
Pages: 941 - 945
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