Molecular genetic analysis of factor X deficiency : gene deletion and germline mosaicism
A case of homozygous factor X deficiency arising from the inheritance of two non-identical gene deletions from heterozygous parents is described. One, a partial gene deletion, was localized to exons VII and VIII by a combination of Southern blotting and polymerase chain reaction (PCR) amplification...
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| Veröffentlicht in: | Human genetics 1991, Vol.86 (3), p.273-278 |
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| container_issue | 3 |
| container_start_page | 273 |
| container_title | Human genetics |
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| creator | WIELAND, K MILLAR, D. S GRUNDY, C. B MIBASHAN, R. S KAKKAR, V. V COOPER, D. N |
| description | A case of homozygous factor X deficiency arising from the inheritance of two non-identical gene deletions from heterozygous parents is described. One, a partial gene deletion, was localized to exons VII and VIII by a combination of Southern blotting and polymerase chain reaction (PCR) amplification of exon sequences. The other deletion, of maternal origin, probably involves the entire factor X gene. Restriction fragments associated with the exon VII + VIII deletion were present in three siblings including the homozygous proband. These fragments were however absent from the somatic cells of the father, a finding consistent with germline mosaicism. |
| doi_str_mv | 10.1007/BF00202408 |
| format | Article |
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These fragments were however absent from the somatic cells of the father, a finding consistent with germline mosaicism.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/BF00202408</identifier><identifier>PMID: 1997381</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Base Sequence ; Biological and medical sciences ; Blotting, Southern ; Chromosome Deletion ; Exons ; Factor X - genetics ; Factor X Deficiency - genetics ; Female ; Genetic Carrier Screening ; Hematologic and hematopoietic diseases ; Humans ; Male ; Medical sciences ; Molecular Sequence Data ; Mosaicism ; Oligonucleotide Probes ; Pedigree ; Phenotype ; Platelet diseases and coagulopathies ; Polymerase Chain Reaction ; Restriction Mapping</subject><ispartof>Human genetics, 1991, Vol.86 (3), p.273-278</ispartof><rights>1991 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c312t-6378cfa5a87aec9dbc0ee7237441b5b55a13b01895939252731edc958d961c3c3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,4024,27923,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19772873$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1997381$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>WIELAND, K</creatorcontrib><creatorcontrib>MILLAR, D. S</creatorcontrib><creatorcontrib>GRUNDY, C. B</creatorcontrib><creatorcontrib>MIBASHAN, R. S</creatorcontrib><creatorcontrib>KAKKAR, V. V</creatorcontrib><creatorcontrib>COOPER, D. N</creatorcontrib><title>Molecular genetic analysis of factor X deficiency : gene deletion and germline mosaicism</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>A case of homozygous factor X deficiency arising from the inheritance of two non-identical gene deletions from heterozygous parents is described. One, a partial gene deletion, was localized to exons VII and VIII by a combination of Southern blotting and polymerase chain reaction (PCR) amplification of exon sequences. The other deletion, of maternal origin, probably involves the entire factor X gene. Restriction fragments associated with the exon VII + VIII deletion were present in three siblings including the homozygous proband. These fragments were however absent from the somatic cells of the father, a finding consistent with germline mosaicism.</description><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Blotting, Southern</subject><subject>Chromosome Deletion</subject><subject>Exons</subject><subject>Factor X - genetics</subject><subject>Factor X Deficiency - genetics</subject><subject>Female</subject><subject>Genetic Carrier Screening</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Molecular Sequence Data</subject><subject>Mosaicism</subject><subject>Oligonucleotide Probes</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Platelet diseases and coagulopathies</subject><subject>Polymerase Chain Reaction</subject><subject>Restriction Mapping</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1991</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpN0M9LwzAUB_AgypzTi3ehFz0I1ZdfTeJNh1Nh4kVht5KmqVTSZibtYf-90Q3mKfB9Hx4vX4TOMdxgAHH7sAAgQBjIAzTFjJIcE6CHaAqUQV4ILI7RSYxfAJgrwidogpUSVOIpWr16Z83odMg-bW-H1mS6124T25j5Jmu0GXzIVlltm9a0tjeb7O5PpsQl7vvk65SEzrUp7XzUCcbuFB012kV7tntn6GPx-D5_zpdvTy_z-2VuKCZDXlAhTaO5lkJbo-rKgLWCUMEYrnjFuca0AiwVVzSdTgTFtjaKy1oV2FBDZ-hqu3cd_Pdo41B2bTTWOd1bP8ZSAuOMUZHg9Raa4GMMtinXoe102JQYyt8ay32NCV_sto5VZ-s93faW5pe7uY5GuyboPn36HxOCSEHpD8UjeNM</recordid><startdate>1991</startdate><enddate>1991</enddate><creator>WIELAND, K</creator><creator>MILLAR, D. 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S</creatorcontrib><creatorcontrib>GRUNDY, C. B</creatorcontrib><creatorcontrib>MIBASHAN, R. S</creatorcontrib><creatorcontrib>KAKKAR, V. V</creatorcontrib><creatorcontrib>COOPER, D. N</creatorcontrib><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>MEDLINE - Academic</collection><jtitle>Human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>WIELAND, K</au><au>MILLAR, D. S</au><au>GRUNDY, C. B</au><au>MIBASHAN, R. S</au><au>KAKKAR, V. V</au><au>COOPER, D. N</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular genetic analysis of factor X deficiency : gene deletion and germline mosaicism</atitle><jtitle>Human genetics</jtitle><addtitle>Hum Genet</addtitle><date>1991</date><risdate>1991</risdate><volume>86</volume><issue>3</issue><spage>273</spage><epage>278</epage><pages>273-278</pages><issn>0340-6717</issn><eissn>1432-1203</eissn><coden>HUGEDQ</coden><abstract>A case of homozygous factor X deficiency arising from the inheritance of two non-identical gene deletions from heterozygous parents is described. One, a partial gene deletion, was localized to exons VII and VIII by a combination of Southern blotting and polymerase chain reaction (PCR) amplification of exon sequences. The other deletion, of maternal origin, probably involves the entire factor X gene. Restriction fragments associated with the exon VII + VIII deletion were present in three siblings including the homozygous proband. These fragments were however absent from the somatic cells of the father, a finding consistent with germline mosaicism.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><cop>New York, NY</cop><pub>Springer</pub><pmid>1997381</pmid><doi>10.1007/BF00202408</doi><tpages>6</tpages></addata></record> |
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| ispartof | Human genetics, 1991, Vol.86 (3), p.273-278 |
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| language | eng |
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| source | MEDLINE; SpringerNature Journals |
| subjects | Base Sequence Biological and medical sciences Blotting, Southern Chromosome Deletion Exons Factor X - genetics Factor X Deficiency - genetics Female Genetic Carrier Screening Hematologic and hematopoietic diseases Humans Male Medical sciences Molecular Sequence Data Mosaicism Oligonucleotide Probes Pedigree Phenotype Platelet diseases and coagulopathies Polymerase Chain Reaction Restriction Mapping |
| title | Molecular genetic analysis of factor X deficiency : gene deletion and germline mosaicism |
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