In:
ABI Genetika, National Library of Serbia, Vol. 49, No. 2 ( 2017), p. 559-572
Abstract:
Fanconi anemia is rare inherited disease characterized by wide spectrum of
congenital anomalies, progressive pancytopenia, and predisposition to
hematological malignancies and solid tumors. Molecular genetic analysis of
mutations in FANC genes is of a great importance for diagnosis confirmation,
prenatal and carrier testing, as well as for prediction of chemotherapy
outcome and disease complications. In this study we performed screening of
frequently affected regions of FANCD2 gene for sequence variants in six
unrelated FA-D2 patients in Serbia. This is the first molecular analysis of
FANCD2 gene in Serbian FA-D2 patients. A total of 10 sequence variants were
detected, one in homozygous, and nine in heterozygous state. Two variants
were found within exons, and eight within introns, in deep intronic regions.
In-silico analysis showed that among all detected variants one exon variant
and three intron variants might have impact on splicing mechanism.
Heterozygous variants found in intron 3, c.206-246delG; exon 26, c.2396 C〉A
and intron 28, c.2715+573 C〉T were not previously reported. In-silico
analysis revealed that among them, two (intron 3, c.206-246 delG and exon 26,
c.2396 C〉A) could be novel disease-causing mutations. Many variants were
found in more than one patient, including those unreported, indicating their
possible ethnic association. Great number of variants in some patients
suggests their non-random emergence in Fanconi anemia pathway.
Type of Medium:
Online Resource
ISSN:
0534-0012
,
1820-6069
DOI:
10.2298/GENSR1702559T
Language:
English
Publisher:
National Library of Serbia
Publication Date:
2017
detail.hit.zdb_id:
2585955-9
SSG:
12
