CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis
As it is well established that an association exists between congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis gene mutations, we investigated CFTR(TG)m(T)n polymorphism within a Taiwanese population that exhibits a very low incidence of CF. Sixty‐three patients with CBAVD...
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| Veröffentlicht in: | Clinical genetics 2009-09, Vol.76 (3), p.282-286 |
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| creator | Chiang, H-S Lu, J-F Liu, C-H Wu, Y-N Wu, C-C |
| description | As it is well established that an association exists between congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis gene mutations, we investigated CFTR(TG)m(T)n polymorphism within a Taiwanese population that exhibits a very low incidence of CF. Sixty‐three patients with CBAVD and 86 age‐matched normal control subjects were evaluated. Temporal temperature gradient gel electrophoresis was used for CFTR mutational analysis. No major CFTR mutation was found in the patient series. A single prominent CFTR mutation, IVS8‐5T, was present; however, (50.8% of 63 cases and 33.3% of 126 alleles), and exhibited a high prevalence of 12 or 13 TG repeats (93.8% of 32 cases and 95.2% of 42 alleles with IVS8‐5T). Although these results are similar to those of Japanese CBAVD patients, they are higher than the common frequency (about 21%) found among Caucasian CBAVD patients. The very high percentage (42.9%) of patients with no CFTR mutations is also an ethnic characteristic. We concluded that CBAVD patients from Taiwan, who express a very low incidence of CF, were less affected by CFTR mutations, with the exception of IVS8‐5T linked to either 12 or 13 TG repeats, which does exhibit a high prevalence among CBAVD patients tested. |
| doi_str_mv | 10.1111/j.1399-0004.2009.01258.x |
| format | Article |
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Sixty‐three patients with CBAVD and 86 age‐matched normal control subjects were evaluated. Temporal temperature gradient gel electrophoresis was used for CFTR mutational analysis. No major CFTR mutation was found in the patient series. A single prominent CFTR mutation, IVS8‐5T, was present; however, (50.8% of 63 cases and 33.3% of 126 alleles), and exhibited a high prevalence of 12 or 13 TG repeats (93.8% of 32 cases and 95.2% of 42 alleles with IVS8‐5T). Although these results are similar to those of Japanese CBAVD patients, they are higher than the common frequency (about 21%) found among Caucasian CBAVD patients. The very high percentage (42.9%) of patients with no CFTR mutations is also an ethnic characteristic. We concluded that CBAVD patients from Taiwan, who express a very low incidence of CF, were less affected by CFTR mutations, with the exception of IVS8‐5T linked to either 12 or 13 TG repeats, which does exhibit a high prevalence among CBAVD patients tested.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/j.1399-0004.2009.01258.x</identifier><identifier>PMID: 19737283</identifier><identifier>CODEN: CLGNAY</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Adult ; Biological and medical sciences ; Case-Control Studies ; congenital bilateral absence of the vas deferens ; Cystic fibrosis ; Cystic Fibrosis - complications ; Cystic Fibrosis - epidemiology ; Cystic Fibrosis - genetics ; cystic fibrosis transmembrane conductance regulator ; Cystic Fibrosis Transmembrane Conductance Regulator - genetics ; Errors of metabolism ; Fundamental and applied biological sciences. Psychology ; Gene expression ; Gene Frequency ; General aspects. Genetic counseling ; Genetic linkage ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Humans ; Incidence ; Male ; male infertility ; Medical genetics ; Medical sciences ; Metabolic diseases ; Middle Aged ; Miscellaneous hereditary metabolic disorders ; Molecular and cellular biology ; Mutation - genetics ; Polymorphism ; Polymorphism, Single Nucleotide - genetics ; Repetitive Sequences, Nucleic Acid - genetics ; sweat chloride ; Taiwan - epidemiology ; Vas Deferens - abnormalities</subject><ispartof>Clinical genetics, 2009-09, Vol.76 (3), p.282-286</ispartof><rights>2009 John Wiley & Sons A/S</rights><rights>2009 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4948-ba384211ec89915ef847c12265ac9a616ebceff60a90a917e9f0b2c083dbf6433</citedby><cites>FETCH-LOGICAL-c4948-ba384211ec89915ef847c12265ac9a616ebceff60a90a917e9f0b2c083dbf6433</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1399-0004.2009.01258.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1399-0004.2009.01258.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27903,27904,45553,45554</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21979882$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19737283$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chiang, H-S</creatorcontrib><creatorcontrib>Lu, J-F</creatorcontrib><creatorcontrib>Liu, C-H</creatorcontrib><creatorcontrib>Wu, Y-N</creatorcontrib><creatorcontrib>Wu, C-C</creatorcontrib><title>CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis</title><title>Clinical genetics</title><addtitle>Clin Genet</addtitle><description>As it is well established that an association exists between congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis gene mutations, we investigated CFTR(TG)m(T)n polymorphism within a Taiwanese population that exhibits a very low incidence of CF. Sixty‐three patients with CBAVD and 86 age‐matched normal control subjects were evaluated. Temporal temperature gradient gel electrophoresis was used for CFTR mutational analysis. No major CFTR mutation was found in the patient series. A single prominent CFTR mutation, IVS8‐5T, was present; however, (50.8% of 63 cases and 33.3% of 126 alleles), and exhibited a high prevalence of 12 or 13 TG repeats (93.8% of 32 cases and 95.2% of 42 alleles with IVS8‐5T). Although these results are similar to those of Japanese CBAVD patients, they are higher than the common frequency (about 21%) found among Caucasian CBAVD patients. The very high percentage (42.9%) of patients with no CFTR mutations is also an ethnic characteristic. We concluded that CBAVD patients from Taiwan, who express a very low incidence of CF, were less affected by CFTR mutations, with the exception of IVS8‐5T linked to either 12 or 13 TG repeats, which does exhibit a high prevalence among CBAVD patients tested.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Case-Control Studies</subject><subject>congenital bilateral absence of the vas deferens</subject><subject>Cystic fibrosis</subject><subject>Cystic Fibrosis - complications</subject><subject>Cystic Fibrosis - epidemiology</subject><subject>Cystic Fibrosis - genetics</subject><subject>cystic fibrosis transmembrane conductance regulator</subject><subject>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</subject><subject>Errors of metabolism</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene expression</subject><subject>Gene Frequency</subject><subject>General aspects. Genetic counseling</subject><subject>Genetic linkage</subject><subject>Genetics</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Humans</subject><subject>Incidence</subject><subject>Male</subject><subject>male infertility</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Middle Aged</subject><subject>Miscellaneous hereditary metabolic disorders</subject><subject>Molecular and cellular biology</subject><subject>Mutation - genetics</subject><subject>Polymorphism</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Repetitive Sequences, Nucleic Acid - genetics</subject><subject>sweat chloride</subject><subject>Taiwan - epidemiology</subject><subject>Vas Deferens - abnormalities</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkV1v0zAUhi0EYl3hLyALCdguEuw4ie0LLrZs65CmIVAZl5bj2swlX8SJ2v77nahVkbhAWJbs4_O81jnnRQhTElNYH9cxZVJGhJA0TgiRMaFJJuLtMzQ7Jp6jGRwykjRnJ-g0hDWEjGfyJTqhkjOeCDZDTXGz_IbPlovz-mx53uCurXZ123ePPtTYQ6wHb5sh4I0fHnFxefFwNT1rALuxgmTbYLvtehuCb37iqt1A2viVbYzFrcNmFwZvsPNl3wYfXqEXTlfBvj6cc_T95npZ3EZ3Xxafi4u7yKQyFVGpmUgTSq0RUtLMOpFyQ5Mkz7SROqe5LY11LidawqbcSkfKxBDBVqXLU8bm6MP-365vf482DKr2wdiq0o1tx6A4Y5mUKadAvv8nmVAieUoyAN_-Ba7bsW-gCwUWcJoSGOgciT1koN3QW6e63te63ylK1GSdWqvJITU5NOngNlmntiB9c_h_LGu7-iM8eAXAuwOgg9GV6zUMOhy5BEApRALcpz238ZXd_XcBqlhcTzfQR3u9D4PdHvW6_6VyKCVTP-4X6uvV7f3DpeBKsidmHMHZ</recordid><startdate>200909</startdate><enddate>200909</enddate><creator>Chiang, H-S</creator><creator>Lu, J-F</creator><creator>Liu, C-H</creator><creator>Wu, Y-N</creator><creator>Wu, C-C</creator><general>Blackwell Publishing Ltd</general><general>Wiley-Blackwell</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>200909</creationdate><title>CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis</title><author>Chiang, H-S ; Lu, J-F ; Liu, C-H ; Wu, Y-N ; Wu, C-C</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4948-ba384211ec89915ef847c12265ac9a616ebceff60a90a917e9f0b2c083dbf6433</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Case-Control Studies</topic><topic>congenital bilateral absence of the vas deferens</topic><topic>Cystic fibrosis</topic><topic>Cystic Fibrosis - complications</topic><topic>Cystic Fibrosis - epidemiology</topic><topic>Cystic Fibrosis - genetics</topic><topic>cystic fibrosis transmembrane conductance regulator</topic><topic>Cystic Fibrosis Transmembrane Conductance Regulator - genetics</topic><topic>Errors of metabolism</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene expression</topic><topic>Gene Frequency</topic><topic>General aspects. Genetic counseling</topic><topic>Genetic linkage</topic><topic>Genetics</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Humans</topic><topic>Incidence</topic><topic>Male</topic><topic>male infertility</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Middle Aged</topic><topic>Miscellaneous hereditary metabolic disorders</topic><topic>Molecular and cellular biology</topic><topic>Mutation - genetics</topic><topic>Polymorphism</topic><topic>Polymorphism, Single Nucleotide - genetics</topic><topic>Repetitive Sequences, Nucleic Acid - genetics</topic><topic>sweat chloride</topic><topic>Taiwan - epidemiology</topic><topic>Vas Deferens - abnormalities</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chiang, H-S</creatorcontrib><creatorcontrib>Lu, J-F</creatorcontrib><creatorcontrib>Liu, C-H</creatorcontrib><creatorcontrib>Wu, Y-N</creatorcontrib><creatorcontrib>Wu, C-C</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chiang, H-S</au><au>Lu, J-F</au><au>Liu, C-H</au><au>Wu, Y-N</au><au>Wu, C-C</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2009-09</date><risdate>2009</risdate><volume>76</volume><issue>3</issue><spage>282</spage><epage>286</epage><pages>282-286</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><coden>CLGNAY</coden><abstract>As it is well established that an association exists between congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis gene mutations, we investigated CFTR(TG)m(T)n polymorphism within a Taiwanese population that exhibits a very low incidence of CF. Sixty‐three patients with CBAVD and 86 age‐matched normal control subjects were evaluated. Temporal temperature gradient gel electrophoresis was used for CFTR mutational analysis. No major CFTR mutation was found in the patient series. A single prominent CFTR mutation, IVS8‐5T, was present; however, (50.8% of 63 cases and 33.3% of 126 alleles), and exhibited a high prevalence of 12 or 13 TG repeats (93.8% of 32 cases and 95.2% of 42 alleles with IVS8‐5T). Although these results are similar to those of Japanese CBAVD patients, they are higher than the common frequency (about 21%) found among Caucasian CBAVD patients. The very high percentage (42.9%) of patients with no CFTR mutations is also an ethnic characteristic. We concluded that CBAVD patients from Taiwan, who express a very low incidence of CF, were less affected by CFTR mutations, with the exception of IVS8‐5T linked to either 12 or 13 TG repeats, which does exhibit a high prevalence among CBAVD patients tested.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>19737283</pmid><doi>10.1111/j.1399-0004.2009.01258.x</doi><tpages>5</tpages></addata></record> |
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| subjects | Adult Biological and medical sciences Case-Control Studies congenital bilateral absence of the vas deferens Cystic fibrosis Cystic Fibrosis - complications Cystic Fibrosis - epidemiology Cystic Fibrosis - genetics cystic fibrosis transmembrane conductance regulator Cystic Fibrosis Transmembrane Conductance Regulator - genetics Errors of metabolism Fundamental and applied biological sciences. Psychology Gene expression Gene Frequency General aspects. Genetic counseling Genetic linkage Genetics Genetics of eukaryotes. Biological and molecular evolution Humans Incidence Male male infertility Medical genetics Medical sciences Metabolic diseases Middle Aged Miscellaneous hereditary metabolic disorders Molecular and cellular biology Mutation - genetics Polymorphism Polymorphism, Single Nucleotide - genetics Repetitive Sequences, Nucleic Acid - genetics sweat chloride Taiwan - epidemiology Vas Deferens - abnormalities |
| title | CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis |
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