Acta geneticae medicae et gemellologiae最新文献

{"title":"Fingernail, as an Alternative Source of DNA for Forensic Investigations and Medical Diagnostics A new technique to obtain template DNA in critical situations","authors":"U. Ricci, M. L. Uzielli","doi":"10.1017/S0001566000001525","DOIUrl":"https://doi.org/10.1017/S0001566000001525","url":null,"abstract":"The use of PCR (polymerase chain reaction) is having a profound impact on forensic science and medical diagnostics. Limited amounts of biological material and/or degraded low molecular weight DNA can be anticipated for forensic identification and often also for diagnostic investigations in fetuses, stillbirths and children with birth defects. In vitro amplification of DNA, via PCR, represents an important tool for overcoming some of the limitations. Nevertheless, the problem of availability of biological samples as DNA source is often critic. In order to obtain a useful and rapid procedure of DNA analysis in such difficult situations, we have recently developed a simple DNA extraction method using Chelex 100 and a PCR based amplification technique, and using fingernail as an alternative source of DNA. Chelex 100 procedures result in denaturated DNA samples, not suitable for RFLPS analysis. Nevertheless we demonstrated that no differences are detectable between the genotypes obtained by PCR amplification using the conventional phenol-chlorophorm or saline extraction and the Chelex based procedure. A DNA sample of 3-5 micrograms weight was easily obtained from fingernail clippings, and enabled us to perform several tests by using DNA typing methodologies, both for personal identification (in various forensic, medical and social situations) and in disputed parentage. Our laboratory uses as polymorphic markers a set of several VNTRs (variable number of tandem repeats) and, more recently, a series of unlinked STRs (short tandem repeats). The use of DNA typing with STR loci provides an accurate, highly sensitive and rapid assay for parentage testing, forensic identification and medical applications.","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"20 1","pages":"301-302"},"PeriodicalIF":0.0,"publicationDate":"1996-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91529513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"X Chromosome Inactivation and Imprinting","authors":"M. Lyon","doi":"10.1017/S0001566000001148","DOIUrl":"https://doi.org/10.1017/S0001566000001148","url":null,"abstract":"In contrast to the random inactivation of either maternal or paternal X-chromosome in the somatic cells of eutherian mammals, in marsupials the paternal X-chromosome is preferentially inactivated in all cells. Similar exclusively paternal X-inactivation occurs in two extraembryonic cell lineages of mice and rats. Thus, genetic imprinting is an important feature of X-inactivation. In embryonic development the initiation of X-inactivation is thought to occur through the X-inactivation centre, located on the X-Chromosome, and thus imprinting probably acts through this centre. A candidate gene for a role in the inactivation centre is Xist (X inactive specific transcript) which is expressed only from the inactive X-Chromosome. The expression of Xist in the mouse embryo is appropriate for it to be a cause rather than a consequence of inactivation. It appears before inactivation, and only the paternal allele is expressed in the extraembryonic lineages. In the germ cells also changes in X-chromosome activity are accompanied by changes in Xist expression. Studies of methylation of the Xist gene have shown that in male tissues where Xist is not active it is fully methylated, whereas in the female the allele on the active X-chromosome only is methylated. In male germ cells, where Xist is expressed, it is demethylated and the demethylation persists in mature spermatozoa. Thus a methylation difference in germ cells could possibly be the imprint. In androgenotes, with paternally derived chromosomes, Xist is expressed at the 4-cell stage, whereas in gynogenotes and parthenogenotes expression does not appear until the blastocyst stage. Thus, Xist expression shows imprinting. When expression appears in parthenogenotes it is random, suggesting that the imprint has been lost. The Xist gene has no open reading frame and is thought to act through mRNA but its function is unknown.","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"70 6 1","pages":"85-85"},"PeriodicalIF":0.0,"publicationDate":"1996-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83342220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Embryologic development and monozygotic twinning.","authors":"J G Hall, E Lopez-Rangel","doi":"10.1017/s0001566000001094","DOIUrl":"https://doi.org/10.1017/s0001566000001094","url":null,"abstract":"","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"45 1-2","pages":"53-7"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000001094","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19836868","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Immunohistochemical analysis of c-Fos and c-Jun in retinoblastoma.","authors":"F Faraldi,&nbsp;A Calzolari,&nbsp;M Forni,&nbsp;F Chiarelli,&nbsp;F Mincione,&nbsp;G Alfieri","doi":"10.1017/s0001566000001483","DOIUrl":"https://doi.org/10.1017/s0001566000001483","url":null,"abstract":"<p><p>The c-fos promoter is negatively regulated by the retinoblastoma (Rb)-susceptibility-gene-encoded protein as well as by other genes involved in the control of transcription, cell cycle regulation and neoplastic transformation. We have examined by immunohistochemistry the c-Fos and c-Jun proteins in five cases of retinoblastoma in order to evaluate eventual alterations in their expression in vivo, possibly related to a gene mutation or to loss of Rb negative control.</p>","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"45 1-2","pages":"289-91"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000001483","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19837924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnosis and prevention of fragile-X syndrome. From the family study to the population screening programme: eighteen years of activity.","authors":"M L Giovannucci Uzielli,&nbsp;S Guarducci,&nbsp;A Cecconi,&nbsp;S Lenzi,&nbsp;U Ricci,&nbsp;C Balestrieri,&nbsp;P Petrocelli,&nbsp;E Lapi","doi":"10.1017/s0001566000001537","DOIUrl":"https://doi.org/10.1017/s0001566000001537","url":null,"abstract":"","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"45 1-2","pages":"303-8"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000001537","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19837926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Medical and clinical genetics: their roots and challenge.","authors":"P E Polani","doi":"10.1017/s0001566000001203","DOIUrl":"https://doi.org/10.1017/s0001566000001203","url":null,"abstract":"","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"45 1-2","pages":"127-36"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000001203","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19838570","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The IPW gene is imprinted and is not expressed in the Prader-Willi syndrome.","authors":"R Wevrick,&nbsp;J A Kerns,&nbsp;U Francke","doi":"10.1017/s000156600000129x","DOIUrl":"https://doi.org/10.1017/s000156600000129x","url":null,"abstract":"","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"45 1-2","pages":"191-7"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s000156600000129x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19838578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Isochromosome 15q of maternal origin in a Prader-Willi patient with pituitary adenoma.","authors":"D Bettio,&nbsp;D Giardino,&nbsp;N Rizzi,&nbsp;P Riva,&nbsp;L Volpi,&nbsp;E Barantani,&nbsp;A Tagliaferri,&nbsp;L Larizza","doi":"10.1017/s000156600000132x","DOIUrl":"https://doi.org/10.1017/s000156600000132x","url":null,"abstract":"<p><p>We report on a Prader-Willi syndrome (PWS) patient carrier of a balanced 15q15q translocation and affected by a prolactin-secreting pituitary adenoma. Evidence provided by molecular studies indicates that the structural rearrangement is an isochromosome of maternal origin. According to the identification of isodisomy as the basis of the association of rare disorders and the recent report on chromosome 15 monosomy and nullisomy in pituitary adenoma, we suggest that in our case PWS and pituitary adenoma might be related.</p>","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"45 1-2","pages":"213-6"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s000156600000132x","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19838581","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dosage and imprinting effects in abnormalities of human chromosome 15","authors":"D. Ledbetter, S. Christian, T. Kubota, A. Mutirangura, J. Sutcliffe, M. Nakao, A. Beaudet","doi":"10.1017/S0001566000001136","DOIUrl":"https://doi.org/10.1017/S0001566000001136","url":null,"abstract":"Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct mental retardation disorders caused by paternal deficiency (PWS) or maternal deficiency (AS) of gene(s) in 15ql l .2 -q l3 . We have constructed a 3.5 Mb yeast artificial chromosome (YAC) contig of the PWS/AS region and cosmid contigs of selected YACs at D15S13, SNRPN, S10, and SI 13. Cosmid clones have been used for fluorescence in situ hybridization (FISH) detection of deletions in PWS and AS patients. In addition, a total of 28 short tandem repeat polymorphisms (STRs) have been mapped to specific YACs in the contig, providing a highly informative set of markers for detection of deletion or uniparental disomy (UPD) in PWS and AS patients. Use of the 3 most informative markers in this region (S542, S128, and ASSCA-1) plus 3 markers distal on 15q (S123, S125, and S131) provide an efficient diagnostic strategy for UPD 15. A combination of FISH and STR analysis has identified small deletions in one sporadic and one familial case of PWS (family O). Both deletions involve all or part of the SNRPN gene but do not extend telomeric to PAR-5 or PAR-1, two novel transcripts expressed exclusively from the paternal chromosome. However, expression of SNRPN, PAR-5, and PAR-1 is lost in both cases, implying the presence of an imprinting control region near SNRPN. The smallest deletion in family O is estimated at approximately 30-40 kb in size and involves a newly identified CpG island at the 5' end of SNRPN which is methylated on the maternal chromosome. This small deletion in two PWS affected siblings was present in the father and the paternal grandmother, both of whom were phenotypically normal. These data are consistent with the developing model of a large imprinted domain in 15q 11-q 13 extending from ZNF127 approximately 1.5 Mb proximal to SNRPN distal to the as yet unidentified Angelman gene, a total size of approximately 2 Mb. The presence of at least one cis-acting regulatory element and widely separated coding regions for genes involved in PWS and AS significantly alter the concept of a \"critical region\" for each disease and has important implications for diagnostic strategies employed.","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"53 1","pages":"83-83"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77879762","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The search for molecular defects in genetic disease.","authors":"H Galjaard","doi":"10.1017/s0001566000001082","DOIUrl":"https://doi.org/10.1017/s0001566000001082","url":null,"abstract":"","PeriodicalId":7118,"journal":{"name":"Acta geneticae medicae et gemellologiae","volume":"45 1-2","pages":"43-52"},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1017/s0001566000001082","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19836865","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}