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Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family

The occurrence of cystic fibrosis is very rare in the Asian population. Carriers of the mutations most commonly found in Caucasians were not detected in a large Asian population sample of almost 900 chromosomes. However, an affected Pakistani child born to consanguineous parents was further investig...

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Published in:	Journal of medical genetics 1993-02, Vol.30 (2), p.164-166
Main Authors:	Curtis, A, Richardson, R J, Boohene, J, Jackson, A, Nelson, R, Bhattacharya, S S
Format:	Article
Language:	English
Subjects:	Asia - ethnology Base Sequence Biological and medical sciences Consanguinity cystic fibrosis Cystic Fibrosis - epidemiology Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator DNA - genetics DNA Mutational Analysis England - epidemiology Exons Female Gastroenterology. Liver. Pancreas. Abdomen Homozygote Humans India - ethnology Liver. Biliary tract. Portal circulation. Exocrine pancreas Male man Medical sciences Membrane Proteins - genetics Molecular Sequence Data mutation Other diseases. Semiology Pakistan - ethnology Pedigree Point Mutation
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creator	Curtis, A Richardson, R J Boohene, J Jackson, A Nelson, R Bhattacharya, S S
description	The occurrence of cystic fibrosis is very rare in the Asian population. Carriers of the mutations most commonly found in Caucasians were not detected in a large Asian population sample of almost 900 chromosomes. However, an affected Pakistani child born to consanguineous parents was further investigated and shown to be homozygous for the mutation S549N (G-->A). Molecular and clinical data are presented which may improve our understanding of the phenotypic effects of the S549N mutation in the CFTR gene.
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Carriers of the mutations most commonly found in Caucasians were not detected in a large Asian population sample of almost 900 chromosomes. However, an affected Pakistani child born to consanguineous parents was further investigated and shown to be homozygous for the mutation S549N (G-->A). Molecular and clinical data are presented which may improve our understanding of the phenotypic effects of the S549N mutation in the CFTR gene.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.30.2.164</identifier><identifier>PMID: 7680378</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Asia - ethnology ; Base Sequence ; Biological and medical sciences ; Consanguinity ; cystic fibrosis ; Cystic Fibrosis - epidemiology ; Cystic Fibrosis - genetics ; Cystic Fibrosis Transmembrane Conductance Regulator ; DNA - genetics ; DNA Mutational Analysis ; England - epidemiology ; Exons ; Female ; Gastroenterology. Liver. Pancreas. Abdomen ; Homozygote ; Humans ; India - ethnology ; Liver. Biliary tract. Portal circulation. Exocrine pancreas ; Male ; man ; Medical sciences ; Membrane Proteins - genetics ; Molecular Sequence Data ; mutation ; Other diseases. Semiology ; Pakistan - ethnology ; Pedigree ; Point Mutation</subject><ispartof>Journal of medical genetics, 1993-02, Vol.30 (2), p.164-166</ispartof><rights>1993 INIST-CNRS</rights><rights>Copyright BMJ Publishing Group LTD Feb 1993</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b537t-18bc45e33baef3497e59cc11b03661f83e47620571aa27716813e6c92e33472a3</citedby><cites>FETCH-LOGICAL-b537t-18bc45e33baef3497e59cc11b03661f83e47620571aa27716813e6c92e33472a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016278/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016278/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4561465$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7680378$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Curtis, A</creatorcontrib><creatorcontrib>Richardson, R J</creatorcontrib><creatorcontrib>Boohene, J</creatorcontrib><creatorcontrib>Jackson, A</creatorcontrib><creatorcontrib>Nelson, R</creatorcontrib><creatorcontrib>Bhattacharya, S S</creatorcontrib><title>Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>The occurrence of cystic fibrosis is very rare in the Asian population. Carriers of the mutations most commonly found in Caucasians were not detected in a large Asian population sample of almost 900 chromosomes. However, an affected Pakistani child born to consanguineous parents was further investigated and shown to be homozygous for the mutation S549N (G-->A). Molecular and clinical data are presented which may improve our understanding of the phenotypic effects of the S549N mutation in the CFTR gene.</description><subject>Asia - ethnology</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Consanguinity</subject><subject>cystic fibrosis</subject><subject>Cystic Fibrosis - epidemiology</subject><subject>Cystic Fibrosis - genetics</subject><subject>Cystic Fibrosis Transmembrane Conductance Regulator</subject><subject>DNA - genetics</subject><subject>DNA Mutational Analysis</subject><subject>England - epidemiology</subject><subject>Exons</subject><subject>Female</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Homozygote</subject><subject>Humans</subject><subject>India - ethnology</subject><subject>Liver. Biliary tract. Portal circulation. Exocrine pancreas</subject><subject>Male</subject><subject>man</subject><subject>Medical sciences</subject><subject>Membrane Proteins - genetics</subject><subject>Molecular Sequence Data</subject><subject>mutation</subject><subject>Other diseases. 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Liver. Pancreas. Abdomen</topic><topic>Homozygote</topic><topic>Humans</topic><topic>India - ethnology</topic><topic>Liver. Biliary tract. Portal circulation. Exocrine pancreas</topic><topic>Male</topic><topic>man</topic><topic>Medical sciences</topic><topic>Membrane Proteins - genetics</topic><topic>Molecular Sequence Data</topic><topic>mutation</topic><topic>Other diseases. 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Carriers of the mutations most commonly found in Caucasians were not detected in a large Asian population sample of almost 900 chromosomes. However, an affected Pakistani child born to consanguineous parents was further investigated and shown to be homozygous for the mutation S549N (G-->A). Molecular and clinical data are presented which may improve our understanding of the phenotypic effects of the S549N mutation in the CFTR gene.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>7680378</pmid><doi>10.1136/jmg.30.2.164</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record>
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subjects	Asia - ethnology Base Sequence Biological and medical sciences Consanguinity cystic fibrosis Cystic Fibrosis - epidemiology Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator DNA - genetics DNA Mutational Analysis England - epidemiology Exons Female Gastroenterology. Liver. Pancreas. Abdomen Homozygote Humans India - ethnology Liver. Biliary tract. Portal circulation. Exocrine pancreas Male man Medical sciences Membrane Proteins - genetics Molecular Sequence Data mutation Other diseases. Semiology Pakistan - ethnology Pedigree Point Mutation
title	Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family
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