2009 Vienna - European Society of Human Genetics

Reproductive genetics
the 147 SC children. All children were singletons born after 32 weeks
gestation.
Results: Height and weight in ICSI and SC children were comparable
at the age of 8 and 10 years. Systolic and diastolic blood pressure
were higher in ICSI than in SC children at the age of 8 years (98 mmHg
versus 94 mmHg; pA are significantly associated with reduced sperm numbers
(Tüttelmann, unpublished). The aim of study was to compare the
prevalence of PRM1 and PRM2 polymorphisms of Czech and German
men to disclose the impact of different ethnical and life style pattern on
impaired spermatogenesis .
PRM1 and PRM2 sequencing was performed in 99 and 94 Czech men
with verified fertility and in 77 and 73 German normozoospermic men.
BigDye Terminator chemistry was used on ABI 3130xl Genetic Analyzer.
In PRM1 gene one rare SNP c.102G>T (rs35576928) was detected
only in 1.3 % Germans. One rare (c.54G>A, rs35262993) and one
common SNP (c.230A>C, rs737008) in PRM1 gene were found with
same allele and genotype frequencies. No mutations were found.
In PRM2 gene three rare SNPs c.300A>G, c.281C>T and c.290C>T
were not found in Czech males. Two common SNPs (c.298G>C,
rs1646022 and c.373C>A, rs2070923) were identified with identical
allele and genotype frequencies.
Despite the ethnical difference the allele prevalences of the most frequent
PRM1 and PRM2 polymorphisms are identical in Czech fertile
and German normozoospermic males, except the four rare PRM1 and
PRM2 SNPs present only in German males. Homozygosity of PRM1
230C and PRM2 373A might be associated with reduced sperm numbers
also in Czech subfertile males.
Supported by VZFNM 00064203 and NR9448-3/2007.
Clinically important PRM1 and PRM2 polymorphisms in Czech fertile and
German normozoospermic males
Gene Polymorphism Czechs Germans P
A frequence
C frequence
70.7% (140)
29.3% (58)
71,4 % (110)
28,6 % (44)
ns
PRM1 230A>C AA 48.5% (48) 53,2% (41) ns
AC 44.4% (44) 36,4% (28) ns
CC 7.1% (7) 10,4% (8) ns
C frequence
A frequence
69.7% (131)
30.3% (57)
69,9% (102)
30,1% (44)
ns
PRM2 373C>A CC 47.9% (45) 52.0% (38) ns
AC 43.6% (41) 35.6% (26) ns
AA 8.5% (8) 12.4% (9) ns
P04.31
the role genetic factor in symphysis pubis dysfunctions
L. Kyzdarbayeva, G. Svyatova, T. Kravtsova;
Scientific Center of Obstetrics, Gynecology and Perinatology, Almaty, Kazakhstan.
Recent studies have shown that genetic effects on developing osteoporosis.
The pregnant women with dysfunction symphysis pubis have
a greater risk of preclinical osteoporosis.
Objective. To determine the genetic effects of vitamin D receptor
(VDR), collagen type I (Coll1A1) genes on development of symphysis
pubis dysfunctions by pregnant of Kazakh populations.
Subjects. The material of the study was DNA of 100 health (a control
group) and 50 pregnant with rupture of the symphysis (a basic
group).
Results. The frequency of favorable TT genotype of VDR gene among
the control group was 62,0 ± 4,87 %, in the basic group statistically
lower - 38,0 ±6,93% (χ²=7,73; p