Tissue Culture Techniques as an Aid to Prenatal Diagnosis and Genetic Counselling in Homocystinuria
Cystathionine synthase activity was studied in skin fibroblasts from a mother with homocystinuria and her husband and newborn baby. Enzyme studies were also undertaken on a fibroblast cell line derived from amniotic fluid taken at 16 weeks' gestation. The enzyme activity was very low in the mot...
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| Veröffentlicht in: | Journal of medical genetics 1973-06, Vol.10 (2), p.120-121 |
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| container_end_page | 121 |
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| container_title | Journal of medical genetics |
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| creator | Bittles, A. H. Carson, Nina A. J. |
| description | Cystathionine synthase activity was studied in skin fibroblasts from a mother with homocystinuria and her husband and newborn baby. Enzyme studies were also undertaken on a fibroblast cell line derived from amniotic fluid taken at 16 weeks' gestation. The enzyme activity was very low in the mother, within the normal range in the father, and at an intermediate level consistent with heterozygosity in the infant. The activity present in the amnion fibroblasts was similar to that found in the cell line cultured from the infant's skin biopsy. |
| doi_str_mv | 10.1136/jmg.10.2.120 |
| format | Article |
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H. ; Carson, Nina A. J.</creator><creatorcontrib>Bittles, A. H. ; Carson, Nina A. J.</creatorcontrib><description>Cystathionine synthase activity was studied in skin fibroblasts from a mother with homocystinuria and her husband and newborn baby. Enzyme studies were also undertaken on a fibroblast cell line derived from amniotic fluid taken at 16 weeks' gestation. The enzyme activity was very low in the mother, within the normal range in the father, and at an intermediate level consistent with heterozygosity in the infant. The activity present in the amnion fibroblasts was similar to that found in the cell line cultured from the infant's skin biopsy.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.10.2.120</identifier><identifier>PMID: 4714577</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd</publisher><subject>Adult ; Biopsy ; Clinical Enzyme Tests ; Culture Techniques ; Cystathionine ; Female ; Fibroblasts - metabolism ; Genetic Counseling ; Heterozygote ; Homocystinuria - diagnosis ; Homocystinuria - drug therapy ; Homocystinuria - genetics ; Humans ; Infant, Newborn ; Pregnancy ; Prenatal Diagnosis ; Pyridoxine - therapeutic use ; Tryptophanase - biosynthesis</subject><ispartof>Journal of medical genetics, 1973-06, Vol.10 (2), p.120-121</ispartof><rights>Copyright BMJ Publishing Group LTD Jun 1973</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b477t-ef337094061e14528fd65cff16cc07bd72953c294650daca039775cd8fbdb4483</citedby><cites>FETCH-LOGICAL-b477t-ef337094061e14528fd65cff16cc07bd72953c294650daca039775cd8fbdb4483</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/PMC1012999/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1012999/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/4714577$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Bittles, A. H.</creatorcontrib><creatorcontrib>Carson, Nina A. J.</creatorcontrib><title>Tissue Culture Techniques as an Aid to Prenatal Diagnosis and Genetic Counselling in Homocystinuria</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>Cystathionine synthase activity was studied in skin fibroblasts from a mother with homocystinuria and her husband and newborn baby. Enzyme studies were also undertaken on a fibroblast cell line derived from amniotic fluid taken at 16 weeks' gestation. The enzyme activity was very low in the mother, within the normal range in the father, and at an intermediate level consistent with heterozygosity in the infant. The activity present in the amnion fibroblasts was similar to that found in the cell line cultured from the infant's skin biopsy.</description><subject>Adult</subject><subject>Biopsy</subject><subject>Clinical Enzyme Tests</subject><subject>Culture Techniques</subject><subject>Cystathionine</subject><subject>Female</subject><subject>Fibroblasts - metabolism</subject><subject>Genetic Counseling</subject><subject>Heterozygote</subject><subject>Homocystinuria - diagnosis</subject><subject>Homocystinuria - drug therapy</subject><subject>Homocystinuria - genetics</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis</subject><subject>Pyridoxine - therapeutic use</subject><subject>Tryptophanase - biosynthesis</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1973</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kc2LFDEQxYMo67h68yoEBL1sj0k6H53LwtK6HzKuIqOHvYR0Oj2bsTtZk25x_3vTzDCsHoRAFbwflVf1AHiJ0RLjkr_bDptl7skSE_QILDDlVcEJpY_BAiFCCsJk-RQ8S2mLEC4F5kfgiApMmRALYNYupcnCeurHKVq4tubWu5-TTVDn5-GZa-EY4JdovR51D987vfEhuVls4YX1dnQG1mHyyfa98xvoPLwMQzD3aXR-ik4_B0863Sf7Yl-PwbfzD-v6slh9vriqz1ZFQ4UYC9uVpUCSIo5tdkeqruXMdB3mxiDRtIJIVhoiKWeo1UajUgrBTFt1TdtQWpXH4HQ3925qBtsa68eoe3UX3aDjvQraqb8V727VJvxSGGEipcwD3uwHxDCfYFSDSyavpb0NU1IVloyximXw9T_gNkzR5-UUFgIxyqXkmTrZUSaGlKLtDlYwUnN0Kkc390Tl6DL-6qH9A7zPKuvFTndptL8Pso4_FBelYOr6e60-fb35eLPC12o-x9sd3wzb___8B2bfsWw</recordid><startdate>19730601</startdate><enddate>19730601</enddate><creator>Bittles, A. H.</creator><creator>Carson, Nina A. J.</creator><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group LTD</general><scope>BSCLL</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>K9.</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19730601</creationdate><title>Tissue Culture Techniques as an Aid to Prenatal Diagnosis and Genetic Counselling in Homocystinuria</title><author>Bittles, A. H. ; Carson, Nina A. J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b477t-ef337094061e14528fd65cff16cc07bd72953c294650daca039775cd8fbdb4483</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1973</creationdate><topic>Adult</topic><topic>Biopsy</topic><topic>Clinical Enzyme Tests</topic><topic>Culture Techniques</topic><topic>Cystathionine</topic><topic>Female</topic><topic>Fibroblasts - metabolism</topic><topic>Genetic Counseling</topic><topic>Heterozygote</topic><topic>Homocystinuria - diagnosis</topic><topic>Homocystinuria - drug therapy</topic><topic>Homocystinuria - genetics</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Pregnancy</topic><topic>Prenatal Diagnosis</topic><topic>Pyridoxine - therapeutic use</topic><topic>Tryptophanase - biosynthesis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Bittles, A. H.</creatorcontrib><creatorcontrib>Carson, Nina A. J.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bittles, A. H.</au><au>Carson, Nina A. J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Tissue Culture Techniques as an Aid to Prenatal Diagnosis and Genetic Counselling in Homocystinuria</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>1973-06-01</date><risdate>1973</risdate><volume>10</volume><issue>2</issue><spage>120</spage><epage>121</epage><pages>120-121</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>Cystathionine synthase activity was studied in skin fibroblasts from a mother with homocystinuria and her husband and newborn baby. Enzyme studies were also undertaken on a fibroblast cell line derived from amniotic fluid taken at 16 weeks' gestation. The enzyme activity was very low in the mother, within the normal range in the father, and at an intermediate level consistent with heterozygosity in the infant. The activity present in the amnion fibroblasts was similar to that found in the cell line cultured from the infant's skin biopsy.</abstract><cop>England</cop><pub>BMJ Publishing Group Ltd</pub><pmid>4714577</pmid><doi>10.1136/jmg.10.2.120</doi><tpages>2</tpages><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 0022-2593 |
| ispartof | Journal of medical genetics, 1973-06, Vol.10 (2), p.120-121 |
| issn | 0022-2593 1468-6244 1468-6244 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1012999 |
| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Adult Biopsy Clinical Enzyme Tests Culture Techniques Cystathionine Female Fibroblasts - metabolism Genetic Counseling Heterozygote Homocystinuria - diagnosis Homocystinuria - drug therapy Homocystinuria - genetics Humans Infant, Newborn Pregnancy Prenatal Diagnosis Pyridoxine - therapeutic use Tryptophanase - biosynthesis |
| title | Tissue Culture Techniques as an Aid to Prenatal Diagnosis and Genetic Counselling in Homocystinuria |
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