Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues
PURPOSE: Screening for mutations in the entire Cystic Fibrosis gene (CFTR) of Brazilian infertile men with congenital absence of vas deferens, in order to prevent transmission of CFTR mutations to offspring with the use of assisted reproductive technologies. METHOD: Specific polymerase chain reaction (PCR) primers were designed to each of the 27 exons and splicing sites of interest followed by single strand conformational polymorphism and Heteroduplex Analysis (SSCP-HA) in precast 12.5% polyacrylamide gels at 7ºC and 20ºC. Fragments with abnormal SSCP migration pattern were sequenced. RESULTS: Two novel missense mutations (S753R and G149W) were found in three patients (two brothers) together with the IVS8-5T allele in hetrozygosis. CONCLUSION: The available screenings for CF mutations do not include the atypical mutations associated to absence of vas deferens and thus, when these tests fail to find mutations, there is still a genetic risk of affected children with the help of assisted reproduction. We recommend the screening of the whole CFTR gene for these infertile couples, as part of the work-up before assisted reproduction.
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Digital revista |
| Language: | English |
| Published: |
Faculdade de Medicina / USP
2007
|
| Online Access: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322007000400003 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| id |
oai:scielo:S1807-59322007000400003 |
|---|---|
| record_format |
ojs |
| spelling |
oai:scielo:S1807-593220070004000032007-09-18Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issuesPieri,Patricia de CamposMissaglia,Mariangela TuzzolloRoque,Juliana de AlmeidaMoreira-Filho,Carlos AlbertoHallak,Jorge Vas deferens CFTR Male infertility Azoospermia Prevention PURPOSE: Screening for mutations in the entire Cystic Fibrosis gene (CFTR) of Brazilian infertile men with congenital absence of vas deferens, in order to prevent transmission of CFTR mutations to offspring with the use of assisted reproductive technologies. METHOD: Specific polymerase chain reaction (PCR) primers were designed to each of the 27 exons and splicing sites of interest followed by single strand conformational polymorphism and Heteroduplex Analysis (SSCP-HA) in precast 12.5% polyacrylamide gels at 7ºC and 20ºC. Fragments with abnormal SSCP migration pattern were sequenced. RESULTS: Two novel missense mutations (S753R and G149W) were found in three patients (two brothers) together with the IVS8-5T allele in hetrozygosis. CONCLUSION: The available screenings for CF mutations do not include the atypical mutations associated to absence of vas deferens and thus, when these tests fail to find mutations, there is still a genetic risk of affected children with the help of assisted reproduction. We recommend the screening of the whole CFTR gene for these infertile couples, as part of the work-up before assisted reproduction.info:eu-repo/semantics/openAccessFaculdade de Medicina / USPClinics v.62 n.4 20072007-01-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322007000400003en10.1590/S1807-59322007000400003 |
| institution |
SCIELO |
| collection |
OJS |
| country |
Brasil |
| countrycode |
BR |
| component |
Revista |
| access |
En linea |
| databasecode |
rev-scielo-br |
| tag |
revista |
| region |
America del Sur |
| libraryname |
SciELO |
| language |
English |
| format |
Digital |
| author |
Pieri,Patricia de Campos Missaglia,Mariangela Tuzzollo Roque,Juliana de Almeida Moreira-Filho,Carlos Alberto Hallak,Jorge |
| spellingShingle |
Pieri,Patricia de Campos Missaglia,Mariangela Tuzzollo Roque,Juliana de Almeida Moreira-Filho,Carlos Alberto Hallak,Jorge Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues |
| author_facet |
Pieri,Patricia de Campos Missaglia,Mariangela Tuzzollo Roque,Juliana de Almeida Moreira-Filho,Carlos Alberto Hallak,Jorge |
| author_sort |
Pieri,Patricia de Campos |
| title |
Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues |
| title_short |
Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues |
| title_full |
Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues |
| title_fullStr |
Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues |
| title_full_unstemmed |
Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues |
| title_sort |
novel cftr missense mutations in brazilian patients with congenital absence of vas deferens: counseling issues |
| description |
PURPOSE: Screening for mutations in the entire Cystic Fibrosis gene (CFTR) of Brazilian infertile men with congenital absence of vas deferens, in order to prevent transmission of CFTR mutations to offspring with the use of assisted reproductive technologies. METHOD: Specific polymerase chain reaction (PCR) primers were designed to each of the 27 exons and splicing sites of interest followed by single strand conformational polymorphism and Heteroduplex Analysis (SSCP-HA) in precast 12.5% polyacrylamide gels at 7ºC and 20ºC. Fragments with abnormal SSCP migration pattern were sequenced. RESULTS: Two novel missense mutations (S753R and G149W) were found in three patients (two brothers) together with the IVS8-5T allele in hetrozygosis. CONCLUSION: The available screenings for CF mutations do not include the atypical mutations associated to absence of vas deferens and thus, when these tests fail to find mutations, there is still a genetic risk of affected children with the help of assisted reproduction. We recommend the screening of the whole CFTR gene for these infertile couples, as part of the work-up before assisted reproduction. |
| publisher |
Faculdade de Medicina / USP |
| publishDate |
2007 |
| url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1807-59322007000400003 |
| work_keys_str_mv |
AT pieripatriciadecampos novelcftrmissensemutationsinbrazilianpatientswithcongenitalabsenceofvasdeferenscounselingissues AT missagliamariangelatuzzollo novelcftrmissensemutationsinbrazilianpatientswithcongenitalabsenceofvasdeferenscounselingissues AT roquejulianadealmeida novelcftrmissensemutationsinbrazilianpatientswithcongenitalabsenceofvasdeferenscounselingissues AT moreirafilhocarlosalberto novelcftrmissensemutationsinbrazilianpatientswithcongenitalabsenceofvasdeferenscounselingissues AT hallakjorge novelcftrmissensemutationsinbrazilianpatientswithcongenitalabsenceofvasdeferenscounselingissues |
| _version_ |
1756432002137980928 |