2008 Barcelona - European Society of Human Genetics

Clinical genetics
Methods: Were investigated 78 patients with CF aged from 2 months
to 2 years, 46 boys and 32 girls by mean of polymerase chain reaction
(PCR) .
Results: In 64,1% were detected mutations - delTAF508 - in 57,7%
(15,4% homozygous and 42,3% heterozygous), R334W - heterozygous
- 3,8%, N1303K - heterozygous - 1,3%, MetH polymorphism -
homozygous - 1,3% . In all homozygous and in 88% of heterozygous
of delTAF508 was mentioned pancreatic insufficiency and extremely
severe injury of lungs . In 94,3% of patients the process starts before
one year . From 8 died patients 75% were homozygous for delTAF508 .
In 35% of patients with this mutation was revealed Ps . Aeruginosa,
in 40% of patients was hypotrophy . R334W characterized by slow
progression of broncho-pulmonary injury and absence of pancreatic
insufficiency. In homozygous of MetH polymorphism the disease was
slowly progressive, despite early start in 3 months . 12 patients (15,4%)
were older than 18 years . In half f them were delTAF508 mutation
(heterozygous), in 8 .3% - homozygous . In 16,7% mutations were not
identified.
Conclusion . The clinical pattern and prognosis of CF depends from
type of mutations . The frequency of delTAF508 in Moldova is 57,7% .
In 64,1% of cases mutations are identifiable. In 47,7% patients was determined
only one mutation from compound with delTAF508, R334W,
N1303K . It diminishes the possibilities of prenatal diagnosis and lead
to necessity to wide range of major mutations of causal gene .
P01.033
Association of polymorphism in the endothelial nitric oxide
syntase gene and clinical features in Russian cF patients
homozygous for F508del mutation
E. E. Tymkovskaya, N. V. Petrova, N. J. Kashirskaya, R. A. Zinchenko;
Research Center for Medical Genetics, Moscow, Russian Federation.
The association of 27 b .p .VNTR polymorphism in 4 intron of eNOS
gene and the clinical features of cystic fibrosis was investigated in 101
Russian CF patients homozygous for F508del mutation . All patients
were subdivided for groups according to their eNOS genotype, the
first group - A/A and A/B genotypes (33 patients); the second group
- B/B genotypes (68 patients) . The age of onset of lung and intestinal
disease symptoms, the age of diagnosis, severity of disease progression,
FVC index, height-weight indexes, colonization by S.aureus and
P.aeruginosa and other microorganisms, hepatobiliary disease, meconium
ileus and distal intestinal obstructive syndrome in anamneses
were evaluated. FVC index was significant lower in patients with
A/A and A/B eNOS genotypes (69,37±4,09%) than patients with B/B
genotype (80,57±3,31%; p=0,032) . Liver cirrhosis was more frequent
among patients with B/B eNOS genotype (22,1%) than in patients with
A/A and A/B eNOS genotypes (6,1%; p