High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups
Autor(a) principal: | |
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Data de Publicação: | 2003 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Brazilian Journal of Medical and Biological Research |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000012 |
Resumo: | Congenital heart defects are the most common of all human birth defects. Numerous studies have shown that a deletion within chromosome 22q11 is associated with DiGeorge syndrome and certain forms of sporadic congenital cardiovascular disease. We have determined the value of a PCR assay using markers D22S941, D22S944 and D22S264 designed for the screening of 22q11.2 deletion through consecutive homozygosity in an ethnically admixed urban population. The study population comprised 149 unrelated men and women from three different ethnic groups (white, mulatto and black). Test specificity for the overall population was estimated at 98.3%. We found no significant difference when comparing heterozygosity indices and ethnicity (P value = 0.43 (D22S944), 0.22 (D22S264), and 0.58 (D22S941)). There was no significant difference regarding assay specificity between the three different ethnic groups studied. This assay could constitute a cost-effective way to screen a large number of patients at increased risk, since PCR techniques are easily available, are fast, can be automatized, and are significantly less expensive than fluorescence in situ hybridization. |
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High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groupsDiGeorge syndromePCR screening22q11.2Congenital heart defects are the most common of all human birth defects. Numerous studies have shown that a deletion within chromosome 22q11 is associated with DiGeorge syndrome and certain forms of sporadic congenital cardiovascular disease. We have determined the value of a PCR assay using markers D22S941, D22S944 and D22S264 designed for the screening of 22q11.2 deletion through consecutive homozygosity in an ethnically admixed urban population. The study population comprised 149 unrelated men and women from three different ethnic groups (white, mulatto and black). Test specificity for the overall population was estimated at 98.3%. We found no significant difference when comparing heterozygosity indices and ethnicity (P value = 0.43 (D22S944), 0.22 (D22S264), and 0.58 (D22S941)). There was no significant difference regarding assay specificity between the three different ethnic groups studied. This assay could constitute a cost-effective way to screen a large number of patients at increased risk, since PCR techniques are easily available, are fast, can be automatized, and are significantly less expensive than fluorescence in situ hybridization.Associação Brasileira de Divulgação Científica2003-10-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000012Brazilian Journal of Medical and Biological Research v.36 n.10 2003reponame:Brazilian Journal of Medical and Biological Researchinstname:Associação Brasileira de Divulgação Científica (ABDC)instacron:ABDC10.1590/S0100-879X2003001000012info:eu-repo/semantics/openAccessPereira,A.C.Corrêa,R.F.R.Mota,G.F.Kim,C.A.Mesquita,S.F.Krieger,J.E.eng2003-09-16T00:00:00Zoai:scielo:S0100-879X2003001000012Revistahttps://www.bjournal.org/https://old.scielo.br/oai/scielo-oai.phpbjournal@terra.com.br||bjournal@terra.com.br1414-431X0100-879Xopendoar:2003-09-16T00:00Brazilian Journal of Medical and Biological Research - Associação Brasileira de Divulgação Científica (ABDC)false |
dc.title.none.fl_str_mv |
High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups |
title |
High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups |
spellingShingle |
High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups Pereira,A.C. DiGeorge syndrome PCR screening 22q11.2 |
title_short |
High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups |
title_full |
High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups |
title_fullStr |
High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups |
title_full_unstemmed |
High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups |
title_sort |
High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups |
author |
Pereira,A.C. |
author_facet |
Pereira,A.C. Corrêa,R.F.R. Mota,G.F. Kim,C.A. Mesquita,S.F. Krieger,J.E. |
author_role |
author |
author2 |
Corrêa,R.F.R. Mota,G.F. Kim,C.A. Mesquita,S.F. Krieger,J.E. |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Pereira,A.C. Corrêa,R.F.R. Mota,G.F. Kim,C.A. Mesquita,S.F. Krieger,J.E. |
dc.subject.por.fl_str_mv |
DiGeorge syndrome PCR screening 22q11.2 |
topic |
DiGeorge syndrome PCR screening 22q11.2 |
description |
Congenital heart defects are the most common of all human birth defects. Numerous studies have shown that a deletion within chromosome 22q11 is associated with DiGeorge syndrome and certain forms of sporadic congenital cardiovascular disease. We have determined the value of a PCR assay using markers D22S941, D22S944 and D22S264 designed for the screening of 22q11.2 deletion through consecutive homozygosity in an ethnically admixed urban population. The study population comprised 149 unrelated men and women from three different ethnic groups (white, mulatto and black). Test specificity for the overall population was estimated at 98.3%. We found no significant difference when comparing heterozygosity indices and ethnicity (P value = 0.43 (D22S944), 0.22 (D22S264), and 0.58 (D22S941)). There was no significant difference regarding assay specificity between the three different ethnic groups studied. This assay could constitute a cost-effective way to screen a large number of patients at increased risk, since PCR techniques are easily available, are fast, can be automatized, and are significantly less expensive than fluorescence in situ hybridization. |
publishDate |
2003 |
dc.date.none.fl_str_mv |
2003-10-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000012 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003001000012 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S0100-879X2003001000012 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Associação Brasileira de Divulgação Científica |
publisher.none.fl_str_mv |
Associação Brasileira de Divulgação Científica |
dc.source.none.fl_str_mv |
Brazilian Journal of Medical and Biological Research v.36 n.10 2003 reponame:Brazilian Journal of Medical and Biological Research instname:Associação Brasileira de Divulgação Científica (ABDC) instacron:ABDC |
instname_str |
Associação Brasileira de Divulgação Científica (ABDC) |
instacron_str |
ABDC |
institution |
ABDC |
reponame_str |
Brazilian Journal of Medical and Biological Research |
collection |
Brazilian Journal of Medical and Biological Research |
repository.name.fl_str_mv |
Brazilian Journal of Medical and Biological Research - Associação Brasileira de Divulgação Científica (ABDC) |
repository.mail.fl_str_mv |
bjournal@terra.com.br||bjournal@terra.com.br |
_version_ |
1754302932532068352 |