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Ethnic Origins (ethnic + origins)
Selected AbstractsNovel mutations in VANGL1 in neural tube defects,HUMAN MUTATION, Issue 7 2009Zoha Kibar Abstract Neural tube defects (NTDs) are severe congenital malformations caused by failure of the neural tube to close during neurulation. Their etiology is complex involving both environmental and genetic factors. We have recently reported three mutations in the planar cell polarity gene VANGL1 associated with NTDs. The aim of the present study was to define the role of VANGL1 genetic variants in the development of NTDs in a large cohort of various ethnic origins. We identified five novel missense variants in VANGL1, p.Ser83Leu, p.Phe153Ser, p.Arg181Gln, p.Leu202Phe and p.Ala404Ser, occurring in sporadic and familial cases of spinal dysraphisms. All five variants affect evolutionary conserved residues and are absent from all controls analyzed. This study provides further evidence supporting the role of VANGL1 as a risk factor in the development of spinal NTDs. © 2009 Wiley-Liss, Inc. [source] Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1,HUMAN MUTATION, Issue 2 2009Wenke Seifert Abstract Cohen syndrome is characterised by mental retardation, postnatal microcephaly, facial dysmorphism, pigmentary retinopathy, myopia, and intermittent neutropenia. Mutations in COH1 (VPS13B) have been found in patients with Cohen syndrome from diverse ethnic origins. We have carried out mutation analysis in twelve novel patients with Cohen syndrome from nine families. In this series, we have identified 13 different mutations in COH1, twelve of these are novel including six frameshift mutations, four nonsense mutations, two splice site mutations, and a one-codon deletion. Since different transcripts of COH1 have been reported previously, we have analysed the expression patterns of COH1 splice variants. The transcript variant NM_152564 including exon 28b showed ubiquitous expression in all examined human tissues. In contrast, human brain and retina showed differential splicing of exon 28 (NM_017890). Moreover, analysis of mouse tissues revealed ubiquitous expression of Coh1 homologous to human NM_152564 in all examined tissues but no prevalent alternative splicing. © 2008 Wiley-Liss, Inc. [source] When home is in jail: child development in Spanish penitentiary unitsINFANT AND CHILD DEVELOPMENT, Issue 5 2003Jesús M. Jiménez Abstract The quality of the educational family context of children who live with their mothers in prison (N=127, age M=16.3 months) as well as how this situation affects their level of development are analysed. The assessment of these contexts was carried out using the HOME scale. The evaluation of the children's development was carried out using the Brunet,Lézine scale. The data shows that the quality of this context is extremely low, with one of the most striking features being the low score obtained in the subscales of provision of play materials and variety of experiences. Moreover, there are significant differences in the scores that are related to the mother's level of education, ethnic origins and the type of prison where they are serving their sentences. As for the scores obtained by the children in the Brunet,Lézine scale, the data shows that their level of development is similar to that of the infant population in general although we also found that the development quotients of the children in the group with the lowest scores in the HOME scale tend to drop significantly after 18 months of age. The results are discussed taking into account the interaction of context and development under the light of the canalization hypothesis, and making some suggestions about possible ways to improve these children's life conditions. Copyright © 2003 John Wiley & Sons, Ltd. [source] Care dependency of hospitalized children: testing the Care Dependency Scale for Paediatrics in a cross-cultural comparisonJOURNAL OF ADVANCED NURSING, Issue 2 2009Hanan Tork Abstract Title.,Care dependency of hospitalized children: testing the Care Dependency Scale for Paediatrics in a cross-cultural comparison. Aim., This paper is a report of a study to examine the psychometric properties of the Care Dependency Scale for Paediatrics in Germany and Egypt and to compare the care dependency of school-age children in both countries. Background., Cross-cultural differences in care dependency of older adults have been documented in the literature, but little is known about the differences and similarities with regard to children's care dependency in different cultures. Method., A convenience sample of 258 school-aged children from Germany and Egypt participated in the study in 2005. The reliability of the Care Dependency Scale for Paediatrics was assessed in terms of internal consistency and interrater reliability. Factor analysis (principal component analysis) was employed to verify the construct validity. A Visual Analogue Scale was used to investigate the criterion-related validity. Findings., Good internal consistency was detected both for the Arabic and German versions. Factor analysis revealed one factor for both versions. A Pearson's correlation between the Care Dependency Scale for Paediatrics and Visual Analogue Scale was statistically significant for both versions indicating criterion-related validity. Statistically significant differences between the participants were detected regarding the mean sum score on the Care Dependency Scale for Paediatrics. Conclusion., The Care Dependency Scale for Paediatrics is a reliable and valid tool for assessing the care dependency of children and is recommended for assessing the care dependency of children from different ethnic origins. Differences in care dependency between German and Egyptian children were detected, which might be due to cultural differences. [source] QF-PCR-based prenatal detection of aneuploidy in a southeast Asian populationPRENATAL DIAGNOSIS, Issue 6 2004R. Quaife Abstract Objectives We have investigated the efficacy of using quantitative fluorescent polymerase chain reaction (QF-PCR) for the prenatal recognition of aneuploidy in chromosomes 13, 18, 21, X and Y. A total of 1115 samples, from mainly southeast Asian patients, were analysed and compared in a blind trial to the results previously obtained cytogenetically. Methods A multiplex PCR involving 15 short tandem repeat (STR) sequences was used. The probability of two or more of these markers being informative was calculated, and this required the multiplex PCR to be modified. Results The QF-PCR and previous cytogenetic results concurred, except for two products of conception (POC). One of these may be a case of complete uniparental disomy that was not recognized cytogenetically. The other was tetraploid, and as such appeared normal using QF-PCR. A mosaic trisomy 18 was correctly identified. The population sample was of a mainly Chinese, ethnic origin, and the allele frequency, size and heterozygosity appeared more restricted than the population groups analysed hitherto. Conclusion The QF-PCR methodology is an efficient cost-effective method of screening for major chromosome aneuploidy, and, for certain referral categories, could be used alone. It also appears to be applicable to patients of different ethnic origins. Copyright © 2004 John Wiley & Sons, Ltd. [source] Y-chromosome and mitochondrial DNA studies on the population structure of the Christmas Island communityAMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 3 2005Cheryl A. Wise Abstract Christmas Island is a remote Australian territory located close to the main Indonesian island of Java. Y-chromosome and mitochondrial DNA (mtDNA) markers were used to investigate the genetic structure of the population, which comprises communities of mixed ethnic origin. Analysis of 12 Y-chromosome biallelic polymorphisms revealed a high level of gene diversity and haplotype frequencies that were consistent with source populations in southern China and Southeast Asia. mtDNA hypervariable segment I (HVS-I) sequences displayed high levels of haplotype diversity and nucleotide diversity that were comparable to various Asian populations. Genetic distances revealed extremely low mtDNA differentiation among Christmas Islanders and Asian populations. This was supported by the relatively high proportion of sequence types shared among these populations. The most common mtDNA haplogroups were M* and B, followed by D and F, which are prevalent in East/Southeast Asia. Christmas Islanders of European descent were characterized by the Eurasian haplogroup R*, and a limited degree of admixture was observed. In general, analysis of the genetic data indicated population affinities to southern Chinese (in particular from the Yunnan Province) and Southeast Asia (Thailand, Malaysia, and Cambodia), which was consistent with historical records of settlement. The combined use of these different marker systems provides a useful and appropriate model for the study of contemporary populations derived from different ethnic origins. Am J Phys Anthropol, 2005. © 2005 Wiley-Liss, Inc. [source] | ||||||||||