A direct mutational analysis of the phenylalanine hydroxylase gene (PAH) in Gypsy families with phenylketonuria (PKU) has not yet been presented. However, they obviously represent a group at high risk for this inherited disease. We analyzed the PAH loci of 65 Gypsies originating from Eastern Slovakia by a combination of PCR amplification, direct sequencing and ASO hybridization. These studies uncovered 10 "classical PKU" patients to be homozygous for a R252W (CGG-TGG) transition, and 29 heterozygous carriers of this mutation. Fifteen control Caucasoid PKU patients from the Czech and Slovak Republics were selected. In this group we detected R252W mutation in two subjects (6.67% of all mutant alleles). Both were compound heterozygous for two different mutations. Previous haplotype studies of Welsh Gypsies with PKU were uninformative in the determination of heterozygosity. ASO hybridization served us effectively for the consequent analyses in Gypsy PKU-related families and to identify the carriers among the unrelated subjects.

• MeSH
• bodová mutace * MeSH
• detekce genetických nosičů MeSH
• dítě MeSH
• dospělí MeSH
• fenylalaninhydroxylasa genetika   MeSH
• fenylketonurie etnologie   genetika   MeSH
• lidé MeSH
• mladiství MeSH
• molekulární sekvence - údaje MeSH
• mutační analýza DNA MeSH
• polymerázová řetězová reakce MeSH
• předškolní dítě MeSH
• Romové genetika   MeSH
• sekvence nukleotidů MeSH
• Southernův blotting MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Slovenská republika MeSH
• Názvy látek
• fenylalaninhydroxylasa MeSH

In this paper we describe a pair of novel Ty3/gypsy retrotransposons isolated from the dioecious plant Silene latifolia, consisting of a non-autonomous element Retand-1 (3.7 kb) and its autonomous partner Retand-2 (11.1 kb). These two elements have highly similar long terminal repeat (LTR) sequences but differ in the presence of the typical retroelement coding regions (gag-pol genes), most of which are missing in Retand-1. Moreover, Retand-2 contains two additional open reading frames in antisense orientation localized between the pol gene and right LTR. Retand transcripts were detected in all organs tested (leaves, flower buds and roots) which, together with the high sequence similarity of LTRs in individual elements, indicates their recent transpositional activity. The autonomous elements are similarly abundant (2,700 copies) as non-autonomous ones (2,100 copies) in S. latifolia genome. Retand elements are also present in other Silene species, mostly in subtelomeric heterochromatin regions of all chromosomes. The only exception is the subtelomere of the short arm of the Y chromosome in S. latifolia which is known to lack the terminal heterochromatin. An interesting feature of the Retand elements is the presence of a tandem repeat sequence, which is more amplified in the non-autonomous Retand-1.

• MeSH
• chromozomy rostlin genetika   MeSH
• DNA rostlinná metabolismus   MeSH
• genetická transkripce MeSH
• genom rostlinný genetika   MeSH
• koncové repetice genetika   MeSH
• molekulární sekvence - údaje MeSH
• rekombinantní proteiny genetika   MeSH
• retroelementy genetika   MeSH
• sekvence nukleotidů MeSH
• Silene genetika   MeSH
• Southernův blotting MeSH
• tandemové repetitivní sekvence genetika   MeSH
• telomery genetika   MeSH
• transkripční faktory genetika   MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• DNA rostlinná MeSH
• mdg4 protein (gypsy) MeSH Prohlížeč
• rekombinantní proteiny MeSH
• retroelementy MeSH
• transkripční faktory MeSH

• Klíčová slova
• Genetics and Reproduction, Legal Approach,
• MeSH
• lidé MeSH
• Romové zákonodárství a právo   MeSH
• sterilizace nedobrovolná zákonodárství a právo   MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• soudní případy MeSH
• zprávy MeSH
• Geografické názvy
• Česká republika MeSH

BACKGROUND: Congenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in Bulgarian Gypsies in 1999. It is caused by the homozygous founder mutation c.863 + 389C > T in the CTDP1 gene. The syndrome has been described exclusively in patients of Gypsy ancestry. The prevalence of this disorder in the Gypsy population in the Czech Republic and Central Europe is not known and is probably underestimated and under-diagnosed. METHODS: We clinically diagnosed and assessed 10 CCFDN children living in the Czech Republic. All patients are children of different ages, all of Gypsy origin born in the Czech Republic. Molecular genetic testing for the founder CTDP1 gene mutation was performed. RESULTS: All patients are homozygous for the c.863 + 389C > T mutation in the CTDP1 gene. All patients presented a bilateral congenital cataract and microphthalmos and had early cataract surgery. Correct diagnosis was not made until the age of two. All patients had variably delayed motor milestones. Gait is characteristically paleocerebellar in all the patients. Mental retardation was variable and usually mild. CONCLUSIONS: Clinical diagnosis of CCFDN should be easy for an informed pediatrician or neurologist by the obligate signalling trias of congenital bilateral cataract, developmental delay and later demyelinating neuropathy. Our data indicate a probably high prevalence of CCFDN in the Czech Gypsy ethnic subpopulation.

• MeSH
• dítě MeSH
• katarakta vrozené   diagnóza   etiologie   MeSH
• kojenec MeSH
• kraniofaciální abnormality diagnóza   etiologie   MeSH
• lidé MeSH
• mladiství MeSH
• nemoci nervového systému diagnóza   etiologie   MeSH
• předškolní dítě MeSH
• Romové MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH

• Klíčová slova
• CHILD WELFARE *, MATERNAL WELFARE *,
• MeSH
• dítě MeSH
• lidé MeSH
• manželé * MeSH
• matky * MeSH
• péče o matku * MeSH
• Romové * MeSH
• sociální péče o dítě * MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

OBJECTIVE: The aim of the study was to analyse the frequencies of rs1229984 genotypes within the alcohol dehydrogenase (ADH1B) gene in a Gypsies/Roma population and compare them with other populations and with ethanol consumption. METHODS: We analysed the ADH1B (rs1229984; Arg47→His; c.143G>A) genotype using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) in two ethnically different groups - Gypsies/Roma (N = 301) and Czechs (N = 300) where one day alcohol consumption was recorded. RESULTS: ADH1B genotype/allelic frequencies did not significantly differ between the populations (p = 0.32). The frequency of minor A allele carriers was slightly higher in Gypsies/Roma (14.7%) than in Czechs (11.9%). The prevalence of subjects reporting alcohol intake on the previous day was non-significantly lower in Gypsies/Roma (10.5% vs. 16.4%), as was the amount of alcohol consumed the day before the examination in ethanol consumers (36.1 ± 18.3 g vs. 43.0 ± 27.2 g). CONCLUSIONS: The frequency of rs1229984 genotypes in the ADH1B gene within the Gypsies/Roma population corresponds with frequencies obtained in North India/Central Asia, the putative country of this ethnic origin. Our results suggest that the minority Gypsies/Roma population consume slightly less alcohol than the Czech majority population.

• Klíčová slova
• Czechs, Gypsies/Roma, alcohol dehydrogenase, alcoholic beverages, polymorphism,
• MeSH
• alkoholdehydrogenasa genetika   MeSH
• genetická predispozice k nemoci etnologie   MeSH
• genotyp MeSH
• lidé MeSH
• pití alkoholu etnologie   genetika   MeSH
• Romové genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH
• Názvy látek
• ADH1B protein, human MeSH Prohlížeč
• alkoholdehydrogenasa MeSH

• MeSH
• antropologie fyzická MeSH
• dítě MeSH
• etnicita * MeSH
• lidé MeSH
• mladiství MeSH
• sexuální faktory MeSH
• tělesná hmotnost * MeSH
• tělesná výška * MeSH
• věkové faktory MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Československo MeSH

Direct sequencing was conducted on the regions of the exon 7 and 12 in the phenylalanine hydroxylase (PAH) gene amplified by the polymerase chain reaction, using solid-phase technology involving the biotin streptavidin system. A novel mutation and seven previously known mutations were identified in the PAH genes among 15 Caucasians and 10 Gypsies in the Czech and Slovakia republics, affected with classical phenylketonuria (PKU). Two of these substitutions (R243X and G272X) resulted in the generation of a premature stop codon, and a single base transition of G to A at codon 261 resulted in the substitution of Arg for Gln (R261Q). These three mutations together accounted for 16.7% of PKU alleles among 15 Caucasians. The R252W mutation was detected in these two groups: two Caucasians were compound heterozygous for the P281L or R408W mutations (6.7% of all mutant alleles). However, all 10 Gypsy PKU patients were homozygous for the R252W transition. The R408W mutation accounted for 43% of PKU alleles in 15 Caucasian PKU patients. A novel heterozygous C-to-G transversion at the third base of codon 263 in the exon 7, resulting in the substitution of Phe for Leu (F263L), was detected in a Caucasian PKU patient (3.3% of all mutant alleles). In this study, we revealed a novel PKU mutation of the F263L in Caucasian populations and a high-risk PKU mutation of the R252W in Gypsy populations.

• MeSH
• běloši genetika   MeSH
• fenylalaninhydroxylasa genetika   MeSH
• fenylketonurie etnologie   genetika   MeSH
• lidé MeSH
• molekulární sekvence - údaje MeSH
• mutace * MeSH
• polymerázová řetězová reakce MeSH
• populační genetika * MeSH
• Romové genetika   MeSH
• sekvence nukleotidů MeSH
• sekvenční analýza MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH
• Slovenská republika MeSH
• Názvy látek
• fenylalaninhydroxylasa MeSH

Vitamin C, E and A levels in maternal and cord blood sera were examined at delivery in two districts of the Czech Republic. Information on personal and social characteristics, health, ethnicity, and lifestyle was also collected. A highly significant correlation between ascorbate levels in maternal and cord blood was found. Vitamin C levels in cord blood were about 1.7 times those in maternal blood. This ratio was much higher for mothers deficient in vitamin C: it was about 3 for deficient nonsmokers and as high as 5 for deficient mothers who smoked cigarettes (p < 0.01). This finding may suggest a compensatory mechanism in fetuses that are endangered by oxidative stress. The mean maternal blood levels of vitamin A and E were higher than in fetal blood (both p < 0.001). The mean fetal/maternal ratios were 0.7 for vitamin A and 0.2 for vitamin E levels; these ratios were considerably higher for mothers deficient in a particular vitamin as compared with those for well-nourished mothers. Ascorbate levels were associated with maternal education and smoking. Significantly decreased vitamin C levels were observed in Gypsy mothers and their babies; this may be attributed to unfavorable diet and smoking habits: about 78% of Gypsy mothers admitted smoking as compared with 31% of Czech mothers.

• MeSH
• dieta MeSH
• etnicita * MeSH
• fetální krev chemie   MeSH
• kouření MeSH
• kyselina askorbová aplikace a dávkování   krev   MeSH
• lidé MeSH
• nedostatek vitaminu A epidemiologie   MeSH
• nedostatek vitaminu C epidemiologie   MeSH
• nedostatek vitaminu E epidemiologie   MeSH
• novorozenec MeSH
• pití alkoholu MeSH
• potravní doplňky MeSH
• Romové MeSH
• stupeň vzdělání MeSH
• těhotenství MeSH
• vitamin A aplikace a dávkování   krev   MeSH
• vitamin E aplikace a dávkování   krev   MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, U.S. Gov't, Non-P.H.S. MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH
• Názvy látek
• kyselina askorbová MeSH
• vitamin A MeSH
• vitamin E MeSH

Ogre elements are a group of LTR retrotransposons recently discovered in legume plants, where they constitute almost 40% of the genome in some species. They are exceptional in their size (reaching 25 kb) and possess several specific features, including an intron within a polyprotein-coding region, and an extra open reading frame (ORF1) encoding a protein of unknown function located upstream of the gag gene. Although these features make Ogres interesting for further research, identification of additional elements from a broader range of plant taxa has been complicated by the divergence of their sequences, preventing their detection using similarity-based searches. Here we report the results of structure-based computational searches for Ogre elements in available plant genomic sequences, which proved to be more efficient and revealed occurrences of Ogres in three families of dicot plants (Leguminosae, Solanaceae and Salicaceae). In addition, a representative set of 85 elements was retrieved from a model legume species Medicago truncatula. All identified full-length elements were used for comparative analysis, which showed that in spite of only little conservation of their nucleotide sequences, their protein domains were highly conserved, including several regions within ORF1. Further, the elements shared the same functional regions, including a primer binding site complementary to tRNA(arg), a conserved motif within a polypurine tract, and a putative intron between the pro and rt/rh coding domains. These findings, together with analysis of their phylogenetic relationship to other retrotransposons based on similarities of rt domains suggest that Ogre elements from different plant taxa have a common origin and thus constitute a distinct group of Ty3/gypsy retrotransposons.

• MeSH
• DNA rostlinná genetika   MeSH
• fylogeneze MeSH
• introny MeSH
• koncové repetice MeSH
• otevřené čtecí rámce MeSH
• retroelementy * MeSH
• rostliny klasifikace   genetika   MeSH
• sekvence nukleotidů MeSH
• sekvenční homologie nukleových kyselin MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• DNA rostlinná MeSH
• retroelementy * MeSH