2008 Barcelona - European Society of Human Genetics

Normal variation, population genetics, genetic epidemiology
also found suggestive association of DAOA with the Harm Avoidance
subcomponent 2 (HA2), Fear of Uncertainty, in high risk males and
females. Our findings support the role of DAOA in depression and in a
related temperament trait, HA2 .
P07.037
DFNB mutations outside the GJB coding region in UK hearing
loss referrals: testing and prevalence
C. Bosomworth 1 , L. A. Mavrogiannis 1 , J. Prothero 2 , D. J. Cockburn 1 , J. S.
Rowland 1 , A. F. Brady 2 , H. M. Kingston 3 , C. P. Bennett 1 , R. S. Charlton 1 ;
1 Regional Genetics Service, Leeds, United Kingdom, 2 Regional Genetics Service,
Kennedy-Galton Centre, London, United Kingdom, 3 Regional Genetics
Service, Manchester, United Kingdom.
GJB2, a component of the recessive DFNB1 locus at 13q, encodes
connexin 26 and is the major gene in non-syndromic sensorineural
deafness . Pathogenic DFNB1 mutations that map outside of the GJB2
coding region exist, but routine clinical testing often focuses on the
single coding exon of GJB2 . This bias presents as a high proportion of
unresolved subjects with single GJB2 coding region variants relative to
the background carrier frequency . Untested or uncharacterised DFNB1
alterations are likely to account for the excess . We investigated the significance
of two well-documented DFNB1 changes, the large deletion
g .(GJB6_D13S1830)del and the splice site mutation c .-23+1G>A (also
known as IVS1+1G>A or 1-3170G>A) of the non-coding exon of GJB2,
in a large mixed stream of hearing loss referrals from the UK . Our set
comprised 1425 apparently unrelated index subjects with a 80:20 ratio
of Caucasians to non-Caucasians (predominantly British Asians) . We
developed and validated fluorescent assays for medium-throughput
typing and analysed, prospectively and retrospectively, the vast majority
of appropriate cases . In our Caucasian subgroup, the contribution
of g .(GJB6_D13S1830)del to the detectable DFNB1 mutation spectrum
is 5 .5% (95% CI: 2 .9% - 9 .4%) while the relative frequency of
c .-23+1G>A is 1 .4% (95% CI: 0 .3% - 4 .0%) . g .(GJB6_D13S1830)del
is absent in our non-Caucasian subgroup, but c .-23+1G>A is detected
in around 10% of all pathological genotypes, including homozygous
occurrence in consanguineous pedigrees . Concentrating on the c .-
23+1G>A mutation we discuss genotype-phenotype correlations, impact
on GJB2 expression, and evolutionary origins .
P07.038
the investigation of dermatoglyphic samples in patients with
Parkinson
A. Ozbinar 1 , H. Samli 2 , S. Cetin 3 , T. Fistik 1 , A. Ozgoz 2 , M. Solak 1 , T. Aydemir 3 ,
F. Ozer 3 ;
1 Afyon Kocatepe University, School of Medicine, Department of Medical Biology,
Afyonkarahisar, Turkey, 2 Afyon Kocatepe University, School of Medicine,
Department of Medical Genetics, Afyonkarahisar, Turkey, 3 Haseki Education
and Research Hospital, Clinic of Neurology, Istanbul, Turkey.
The irregularities in the number and the shape of chromosomes destroy
dermatoglyphic samples expressed by minor-effective genes
and helping diagnosis of the hereditary diseases .
The most valid idea for the reason of Parkinson is that, both genetic
and environmental factors associate in the formation of the disease .
The aim of this study is searching the relation between Parkinson and
dermatoglyphics . Due to this, dermatoglyphic samples of 55 cases
with Parkinson were evaluated by comparing the samples of the control
group including 48 healthy people .
Investigating samples from the patient and the control group by “Rontgen
Film method, an increase in the number of the knots and a decrease
in the number of the loops at the I. finger of the right hand; a decrease
in the number of triradiuses at the left hand interdigital regions
I and III and the right hand interdigital region I; decrease in the number
of triradiuses located on the right and the left hand tenar region and
on the right hand hipotenar region; a decrease in the number of right
hand a-b lines were detected. In our study, significant differences were
found in the finger tip and palm samples of the Parkinson patients
(p