1: J Med Genet. 1979 Oct;16(5):363-5.
Alpha-thalassaemia in Cyprus.
Hadjiminas M, Zachariadis Z, Stamatoyannopoulos G.
The frequency of alpha-thalassaemia in Cyprus was determined with studies of
haemoglobin Bart's in 1200 Greek Cypriot and
132 Turkish Cypriot newborn babies.
Of the Greek newborns, 12.4%, and of the Turkish newborns, 6.8% had raised Hb
Bart's (from 0.6% to 12.9% of the total haemoglobin) suggesting that they were
carriers of either alpha-thalassaemia-1 or alpha-thalassaemia-2 genes. The
findings suggest that the population of Cyprus has the highest frequencies of
alpha-thalassaemia among
Caucasian people. PMID: 513081 [PubMed - indexed for MEDLINE]
1: Br J Haematol. 1995 Mar;89(3):496-9.
alpha-Thalassaemia in the population of Cyprus.
Baysal E, Kleanthous M, Bozkurt G, Kyrri A, Kalogirou E, Angastiniotis M, Ioannou
P, Huisman TH.
Laboratory of Protein Chemistry, Medical College of Georgia, Augusta 30912-2100.
We have determined the alpha-thalassaemia (alpha-thal) determinants in 78
patients with Hb H disease from Cyprus; 25 were Turkish Cypriots and 53 were
Greek Cypriots. Four deletional and three non-deletional alpha-thal alleles were
present; the -alpha(3.7 kb) alpha-thal-2 and the --MED-I alpha-thal-1 were most
frequently seen; --MED-II and -(alpha)20.5 deletions occurred at considerably
lower frequencies. About 15% of all chromosomes carried a non-deletional
alpha-thal-2 allele; of these the 5 nucleotide (nt) deletion at the first
intervening sequence (IVS-I) donor splice site was present in approximately 8% of
all chromosomes. Two types of polyadenylation signal (poly A) mutations were
observed. No striking frequency differences were seen between Greek and Turkish
Cypriot patients. Combinations of the various types of alpha-thal resulted in
eight different forms of Hb H disease. The phenotypes were comparable except for
great variations in the level of Hb H which was highest (average approximately
22%) in the 12 patients with the alpha 5nt alpha/--MED-I combination. One patient
with the same form of Hb H disease but with an additional beta-thal
(IVS-I-110,G-->A) heterozygosity had a most severe microcytosis and hypochromia
with < 1% Hb H. Variations in the level of Hb H might correlate with the severity
of the disease, although this was not evident from the haematological data.
PMID: 7734346 [PubMed - indexed for MEDLINE]
1: Genet Test. 2006 Winter;10(4):285-9.
High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek
Cypriot patients with nonsyndromic hearing loss.
Neocleous V, Aspris A, Shahpenterian V, Nicolaou V, Panagi C, Ioannou I, Kyamides
Y, Anastasiadou V, Phylactou LA.
Department of Molecular Genetics, The Cyprus Institute of Neurology and Genetics,
1683 Nicosia, Cyprus.
Mutations in the GJB2 (Connexin 26) gene are responsible for more than half of
all cases of prelingual, recessive, inherited, nonsyndromic deafness in Europe.
This paper presents a mutation analysis of the GJB2 and GJB6 (Connexin 30) genes
in 30 Greek Cypriot patients with sensorineural nonsyndromic hearing loss
compatible with recessive inheritance. Ten of the patients (33.3%) had the 35delG
mutation in the GJB2 gene. Moreover, 9 of these were homozygous for the 35delG
mutation, whereas 1 patient was in the compound heterozygous state with the
disease causing E47X nonsense mutation. Another patient with severe sensorineural
hearing loss was heterozygous for the V153I missense mutation. Finally, no GJB6
mutations or the known del(GJB6-D13S1830) were identified in any of the
investigated Greek Cypriot nonsyndromic hearing loss patients. This work confirms
that the GJB2 35delG mutation is an important pathogenic mutation for hearing
loss in the Greek Cypriot population. This finding will be used toward the
effective diagnosis of nonsyndromic hearing loss, improve genetic counseling, and
serve as a potential therapeutic platform in the future for the affected patients
in Cyprus.
PMID: 17253936 [PubMed - indexed for MEDLINE]
1: Int J Pediatr Otorhinolaryngol. 2006 Aug;70( :1473-7. Epub 2006 May 19.
Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG
mutation in the Greek Cypriot population.
Neocleous V, Portides G, Anastasiadou V, Phylactou LA.
Department of Molecular Genetics C, The Cyprus Institute of Neurology and
Genetics, P.O. Box 23462, 1683 Nicosia, Cyprus.
OBJECTIVE: Mutations in the GJB2 (connexin-26) gene are responsible for more than
half of all cases of prelingual recessive inherited non-syndromic deafness in
Europe. One specific mutation 35delG, accounts for up to 70% of the mutations
detected in European populations and is one of the most frequent disease
mutations identified so far. The aim of this study is to determine the percentage
of carriers of this mutation in the Greek Cypriot population. METHODS: Genomic
DNA was isolated from a total of 405 healthy unrelated Greek Cypriot adults.
Screening for the frameshift 35delG mutation was performed by using an
allele-specific PCR protocol. Moreover, using the Poisson probability
distribution, we compared the carrier frequencies of the 35delG mutation of the
Greek Cypriot population to the various European and Middle Eastern populations.
RESULTS: The carrier frequency in the Greek Cypriot population was estimated to
be 2.5% and is similar to that observed in other European populations. The
variance estimate for 35delG mutation produces slightly wider intervals with the
Poisson model when compared with Binomial probability variance estimate.
PMID: 16713631 [PubMed - indexed for MEDLINE]
1: Genet Test. 2004 Fall;8(3):319-24.
Evidence for association of endothelial cell nitric oxide synthase gene
polymorphism with earlier progression to end-stage renal disease in a cohort of
Hellens from Greece and Cyprus.
Lamnissou K, Zirogiannis P, Trygonis S, Demetriou K, Pierides A, Koptides M,
Deltas CC.
Division of Genetics, Department of Biology, University of Athens, Athens,
Greece.
Nitric oxide (NO) is thought to be an important factor in the deterioration of
renal function. A variable-number tandem 27-bp repeat in intron 4 of the
endothelial cell nitric oxide synthase (NOS3) gene has been found to be
associated with the plasma levels of NO metabolites. Two alleles are of varied
frequencies in different populations (a and b). The shorter allele a has been
associated in Japanese populations with the progression of renal disease. Here we
investigated this hypothesis by studying the putative role of this polymorphism
in a Hellenic population of patients with end-stage renal disease (ESRD). We
analyzed the genotypes of 361 ESRD patients and 295 healthy Hellens from Greece
and Cyprus. The frequencies of NOS3-4bb, NOS3-4ab, and NOS3-4aa were 0.69, 0.27,
and 0.03, respectively, in the control group and 0.71, 0.24, and 0.04 in the
group of patients. The data in the two populations were analyzed by the
chi-square and Fisher's exact tests. The frequencies of these three genotypes of
NOS3-4 polymorphism in the Hellenic population of Greece and Cyprus are similar
to those observed in other Caucasian populations. Moreover, our results from
three patient groups, autosomal dominant polycystic kidney disease (ADPKD),
diabetes mellitus (DM), and non-DM, showed that the frequencies of aa and ab
genotypes in the patient populations were not significantly different from those
observed in the control group. This work indicates that NOS3-4 polymorphism does
not show any association with the development of ESRD in this studied European
population. However, examination of the data regarding progression to ESRD within
5 years or after more than 5 years following clinical diagnosis of ADPKD provided
evidence of statistical difference (p = 0.048, before Bonferroni correction),
with faster progression in the group of ADPKD patients who carried allele a.
PMID: 15727257 [PubMed - indexed for MEDLINE]
1: Genet Test. 2002 Spring;6(1):15-21.
Familial Mediterranean fever (FMF) mutations occur frequently in the
Greek-Cypriot population of Cyprus.
Deltas CC, Mean R, Rossou E, Costi C, Koupepidou P, Hadjiyanni I, Hadjiroussos V,
Petrou P, Pierides A, Lamnisou K, Koptides M.
Department of Molecular Genetics C, Cyprus Institute of Neurology and Genetics,
Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus.
[email protected] Familial Mediterranean Fever (FMF) is an autosomal recessive disease of high
prevalence within Mediterranean countries and particularly common in four ethnic
populations: Arabs, non-Ashkenazi Jews, Armenians, and Turks. The responsible
gene MEFV has been assigned to chromosome 16p13.3. Our aim was to establish the
frequencies of the most common mutations in Greek-Cypriots. We found that 1 in 25
is a carrier of one of three mutations. V726A, M694V, and F479L. In 68
Grek-Cypriot FMF chromosomes analyzed, we found V726A (25%), F479L (20.6%), M694V
(17.6%), and others (36.8%). Mutation F479L, relatively common in this
population, is very rare elsewhere. Our study indicates that FMF is not a rare
condition in Cyprus and that, because of the significant morbidity associated
with this disorder, which is often diagnosed only after unnecessary surgeries, a
newborn screening program to detect affected in this population may be warranted.
PMID: 12180071 [PubMed - indexed for MEDLINE]
1: Genet Epidemiol. 1995;12(5):489-97.
Underexpression of the apolipoprotein E2 and E4 alleles in the Greek Cypriot
population of Cyprus.
Cariolou MA, Kokkofitou A, Manoli P, Christou S, Karagrigoriou A, Middleton L.
Department of Molecular Genetics, Cyprus Institute of Neurology and Genetics,
Nicosia, Cyprus.
Apolipoprotein E (APOE) plays an important role in the multifactorial etiology of
both cardiovascular disease and Alzheimer's disease. Polymerase chain reaction
(PCR) was used to investigate the APOE gene polymorphism in 335 unrelated Greek
Cypriots living on the island of Cyprus. For the most common APOE genotypes, the
Greek Cypriots followed the general Caucasian European pattern of having higher
genotypic frequencies of E3/3, followed by E3/4, and then E2/3. Among the
European populations compared, Greek Cypriots exhibited the lowest relative
frequency of the E3/4 genotype (12.83%). Also, the relative frequencies of the E2
and E4 alleles in Greek Cypriots were among the lowest around the world (5.4% and
7.0%, respectively). This was also demonstrated by using the complete and the
average clustering methods of analysis where the APOE allele relative frequencies
in Greek Cypriots were compared to 46 other populations. The Greek Cypriot
population in these analyses clustered with populations mainly from south Europe
and Japan which have low E2 and E4 allele frequencies. The Greek Cypriot
population will be studied further for elucidating the effect(s) and the role of
APOE in cardiovascular disease and the APOE4 allele as a possible metabolic
factor affecting the rate of expression of both Alzheimer's disease and vascular
dementia.
PMID: 8557181 [PubMed - indexed for MEDLINE]
You've done a swell job tonight with all these findings...
