2009 Vienna - European Society of Human Genetics

Complex traits and polygenic disorders
haplotype distribution demonstrated the presence of linkage disequilibrium
between the A218C and A-6526G polymorphisms both in control
subjects (D’=0.85) and in cases (D’=0.60). Analysis of distribution of
the haplotype frequencies revealed significant difference between depressive
and healthy subjects (χ2=10.06,df=3,p=0.02). Further analysis
showed decrease of the haplotype AG (OR=0.35,95%CI0.17-0.74)
in patient compared to control one. Our findings indicate the contribution
of the TPH1 gene to susceptibility for UD. The research supported
by the Russian Humanitarian Research Fund (#08-06-00579a) and
Russian Science Support Foundation.
P08.65
Uniparental Disomy Analysis Using Linkage mapping set
markers
J. Lee, A. Chhibber, B. F. Johnson, C. M. Davidson, D. Rodriguez, A. A. Pradhan,
R. A. Padilla, R. N. Fish, S. R. Berosik, S. Hung, L. K. Joe, A. C. Felton,
R. Petraroli;
Life Technologies, Foster City, CA, United States.
In a departure from classical Mendelian genetics, there are a few imprinted
genes that are only expressed from the allele inherited from
one parent. Uniparental disomy (UPD) occurs when an individual inherits
both copies of a chromosome pair from only one parent and no
copies from the other parent. Individuals with UPD that have a deficiency
in the expression of imprinted genes on Chromosome 15 are
subject to two genetic disorders, Prader-Willi syndrome (PWS) and
Angelman syndrome (AS). One method used to determine the presence
or absence of the maternal or paternal chromosome is to interrogate
the DNA from the individual and both parents by microsatellite or
STR (Short Tandem Repeat) analysis with fluorescently labeled primers.
We demonstrate new methods to compare the DNA via fragment
analysis by capillary electrophoresis (CE). Such methods could help
in producing consistent results across a wide range of laboratory environments.
We also present a software analysis procedure to rapidly
generate results and draw conclusions.
P08.66
Genetic analysis of iranian families with Usher syndrome type
1, 2, 3
K. Kahrizi 1 , G. Asaadi Tehrani 1,2 , N. Bazazzadegan 1 , M. Mohseni 1 , K. Jalalvand
1 , S. Arzhangi 1 , R. J. H. Smith 3 , H. Najmabadi 1 ;
1 Genetics Research Center, University of Social Welfare and Rehabilitation
Sciences, Tehran, Islamic Republic of Iran, 2 Genetic Department, Science and
Research Unit , Islamic Azad University, Tehran, Islamic Republic of Iran, 3 Molecular
Otolaryngology Research Laboratories , Department of Otolaryngology
Head and Neck Surgery , University of Iowa, IA, United States.
Usher syndrome (USH) is an autosomal recessive disorder with
sensorineural hearing loss, retinitis pigmentosa and in some cases
vestibular dysfunction. At least 13 chromosomal loci are assigned to
three clinical USH types, namely USH1A-H, USH2A-D and USH3A.
The gene products of nine identified USH genes belong to different
protein classes and families. There are five known USH1 molecules:
myosin VIIa (USH1B); cadherin 23 (USH1D) and protocadherin 15
(USH1F); harmonin (USH1C) and SANS (USH1G). In addition, three
USH2 genes and one USH3A gene have been identified. The three
USH2 genes code for the transmembrane protein USH2A (usherin);
the G-protein-coupled 7-transmembrane receptor, VLGR1b (USH2C);
and (WHRN) USH2D. The USH3A gene encodes clarin-1. Worldwide
USH1 and USH2 account for most Usher syndrome cases with rare
occurrences of USH3. In the present study, we determined haplotype
segregation in 33 consanguineous Iranian families using short tandem
repeat polymorphic markers to examine all identified loci for USH1
(USH1A, USH1B, USH1C, USH1D,U SH1E, USH1F, USH1G), all loci
for USH2 (USH2A, USH2B, USH2C, USH2D) and USH3A . We found
10 families demonstrating haplotype segregation consistent with linkage
to one of the loci related to USH1 or USH2: three families linked
to USH1D, two families linked to USH1B and USH2C, and single
families linked to USH1C, USH1F and USH2A. Identified mutations
have included: MYO7A, R150X; VLGR1b, (g.371657_507673del) and
Arg155X. Mutation analysis of the other genes is being completed.
This study suggests that mutations in CDH23, MYO7A and VLGR1b
are major components to Usher syndrome in the Iranian population.
P08.67
Vitamin D receptor gene polymorphism and bone mineral
density in children with intensive caries in st.Petersburg.
D. A. Kuzmina 1 , D. A. Tyrtova 1 , L. V. Tyrtova 1 , M. N. Ostroumova 2 , M. M.
Mnuskina 3 , V. I. Larionova 1 ;
1 State Pediatric Medical Academy, Saint-Petersburg, Russian Federation, 2 Diagnostic
Center N 1, Saint-Petersburg, Russian Federation, 3 Diagnostic Center
N 1, Saint-Petersburg, Russian Federation.
BACKGROUNDS: Low bone mineral density (BMD) for chronological
age, is well-known phenomena in children with intensive caries
(IC). The bone abnormalities in these patients include rampant dental
caries, extensive caries, and hypoplasia of the enamel, bone mineralization
disturbances and growth retardation. Previous studies have
suggested an effect of vitamin D receptor (VDR) alleles on bone mineralization
(peak bone mass) and metabolism in patients with intensive
caries.
OBJECTIVE: to investigate the relationship between VDR gene polymorphism
and BMD in IC children.
PATIENTS AND METHODS: 82 IC children. Average age was 11.7±2.3
years. In all children we evaluated some markers of bone metabolism,
osteocalcine, calcitonin, parathyroid hormone and markers of bone
mineralization, Ca, Ca 2+ , phosphate, and total alkaline phosphatase.
TaqI and ApaI polymorphism of the VDR gene was tested by PCR.
BMD was identified by dual-energy X-ray absorbtiometry of lumbar
spine. Low BMD for chronological age was detected if Zscore