Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans
Oculocutaneous albinism (OCA) is a heterogeneous genetic disorder characterized by hypopigmentation of the hair, skin, and eyes and is associated with the ocular features of nystagmus, reduced visual acuity, and misrouting of the optic fibers at the chiasm. OCA1 or tyrosinase-related OCA results fro...
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| Veröffentlicht in: | Human mutation 1996, Vol.7 (4), p.370-373 |
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| creator | Durham-Pierre, Donna King, Richard A. Naber, John M. Laken, Steve Brilliant, Murray H. |
| description | Oculocutaneous albinism (OCA) is a heterogeneous genetic disorder characterized by hypopigmentation of the hair, skin, and eyes and is associated with the ocular features of nystagmus, reduced visual acuity, and misrouting of the optic fibers at the chiasm. OCA1 or tyrosinase-related OCA results from mutations of the tyrosinase gene on chromosome 11q. OCA2 or P related OCA results from mutations of the P gene on chromosome 15q that encodes a 110 kDa integral melanosomal membrane protein. OCA2 is the most common form of albinism, especially among African-Americans and Africans. In a previous study, we found a 2.7 kb deletion allele that included a single exon of the P gene. To measure the frequency of this mutation, we tested a set of 470 newborn screening (NBS) filter blood spots collected from African-Americans born over a 1-week period in Michigan using a PCR assay. Two individuals from this population were found to carry the 2.7 kb deletion allele. |
| doi_str_mv | 10.1002/(SICI)1098-1004(1996)7:4<370::AID-HUMU15>3.0.CO;2-# |
| format | Article |
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OCA1 or tyrosinase-related OCA results from mutations of the tyrosinase gene on chromosome 11q. OCA2 or P related OCA results from mutations of the P gene on chromosome 15q that encodes a 110 kDa integral melanosomal membrane protein. OCA2 is the most common form of albinism, especially among African-Americans and Africans. In a previous study, we found a 2.7 kb deletion allele that included a single exon of the P gene. To measure the frequency of this mutation, we tested a set of 470 newborn screening (NBS) filter blood spots collected from African-Americans born over a 1-week period in Michigan using a PCR assay. Two individuals from this population were found to carry the 2.7 kb deletion allele.</description><identifier>ISSN: 1059-7794</identifier><identifier>EISSN: 1098-1004</identifier><identifier>DOI: 10.1002/(SICI)1098-1004(1996)7:4<370::AID-HUMU15>3.0.CO;2-#</identifier><identifier>PMID: 8723691</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Albinism, Oculocutaneous - ethnology ; Albinism, Oculocutaneous - genetics ; Alleles ; Base Sequence ; Black or African American ; Black People - genetics ; Carrier Proteins - genetics ; DNA Primers ; Gene Frequency ; Genetic Carrier Screening ; Humans ; Membrane Proteins - genetics ; Membrane Transport Proteins ; Molecular Sequence Data ; Restriction Mapping ; Sequence Deletion</subject><ispartof>Human mutation, 1996, Vol.7 (4), p.370-373</ispartof><rights>Copyright © 1996 Wiley‐Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3575-82ae01460a022e8eab2ebd1fb190ad69cda415684479510467099ea7a33236f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2F%28SICI%291098-1004%281996%297%3A4%3C370%3A%3AAID-HUMU15%3E3.0.CO%3B2-%23$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2F%28SICI%291098-1004%281996%297%3A4%3C370%3A%3AAID-HUMU15%3E3.0.CO%3B2-%23$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,4009,27902,27903,27904,45553,45554</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8723691$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Durham-Pierre, Donna</creatorcontrib><creatorcontrib>King, Richard A.</creatorcontrib><creatorcontrib>Naber, John M.</creatorcontrib><creatorcontrib>Laken, Steve</creatorcontrib><creatorcontrib>Brilliant, Murray H.</creatorcontrib><title>Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans</title><title>Human mutation</title><addtitle>Hum. Mutat</addtitle><description>Oculocutaneous albinism (OCA) is a heterogeneous genetic disorder characterized by hypopigmentation of the hair, skin, and eyes and is associated with the ocular features of nystagmus, reduced visual acuity, and misrouting of the optic fibers at the chiasm. OCA1 or tyrosinase-related OCA results from mutations of the tyrosinase gene on chromosome 11q. OCA2 or P related OCA results from mutations of the P gene on chromosome 15q that encodes a 110 kDa integral melanosomal membrane protein. OCA2 is the most common form of albinism, especially among African-Americans and Africans. In a previous study, we found a 2.7 kb deletion allele that included a single exon of the P gene. To measure the frequency of this mutation, we tested a set of 470 newborn screening (NBS) filter blood spots collected from African-Americans born over a 1-week period in Michigan using a PCR assay. Two individuals from this population were found to carry the 2.7 kb deletion allele.</description><subject>Albinism, Oculocutaneous - ethnology</subject><subject>Albinism, Oculocutaneous - genetics</subject><subject>Alleles</subject><subject>Base Sequence</subject><subject>Black or African American</subject><subject>Black People - genetics</subject><subject>Carrier Proteins - genetics</subject><subject>DNA Primers</subject><subject>Gene Frequency</subject><subject>Genetic Carrier Screening</subject><subject>Humans</subject><subject>Membrane Proteins - genetics</subject><subject>Membrane Transport Proteins</subject><subject>Molecular Sequence Data</subject><subject>Restriction Mapping</subject><subject>Sequence Deletion</subject><issn>1059-7794</issn><issn>1098-1004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1996</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkV1r1EAUhoMota3-BGFAkPYi63wlk9mKENLudrG6Srd4eZgkJzY2m9SZLO3-eyfNsjeKXs35eHlfzjxBcMbohFHK359cL7LFKaM6CX0vT5jW8amayg9C0ek0XZyHlzefb1j0UUzoJFue8fDts-Bwr38-1JEOldLyZXDk3E9KaRJF4iA4SBQXsWaHgbtwfb02fd21pKtIYayt0ZLK4q8NtsV2GBrCJ4rc5aTEBp-Upml8Oez6WyRfyQ9skRjnuqI2PZbkoe5vyTJLOalbkla2Lkwbpmt8Ktyr4EVlGoevd-9xsJpdrLLL8Go5X2TpVViISEVhwg1SJmNqKOeYoMk55iWrcqapKWNdlEayKE6kVDpiVMaKao1GGSH8cZU4Dt6Ntve288e4Hta1K7BpTIvdxoFKmNKCqv8KfQgTOhZe-G0UFrZzzmIF99Z_nt0CozAgAxiQwYBg6CUMyECBBI8MwCODERkIoJAtgXvPN7vwTb7Gcu-4I-T31-P-oW5w-0fgv_L-ErfrvWs4utaux8e9q7F3ECuhIvj-ZQ5zMV_N5PknmInfeza9JQ</recordid><startdate>1996</startdate><enddate>1996</enddate><creator>Durham-Pierre, Donna</creator><creator>King, Richard A.</creator><creator>Naber, John M.</creator><creator>Laken, Steve</creator><creator>Brilliant, Murray H.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>1996</creationdate><title>Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans</title><author>Durham-Pierre, Donna ; King, Richard A. ; Naber, John M. ; Laken, Steve ; Brilliant, Murray H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3575-82ae01460a022e8eab2ebd1fb190ad69cda415684479510467099ea7a33236f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1996</creationdate><topic>Albinism, Oculocutaneous - ethnology</topic><topic>Albinism, Oculocutaneous - genetics</topic><topic>Alleles</topic><topic>Base Sequence</topic><topic>Black or African American</topic><topic>Black People - genetics</topic><topic>Carrier Proteins - genetics</topic><topic>DNA Primers</topic><topic>Gene Frequency</topic><topic>Genetic Carrier Screening</topic><topic>Humans</topic><topic>Membrane Proteins - genetics</topic><topic>Membrane Transport Proteins</topic><topic>Molecular Sequence Data</topic><topic>Restriction Mapping</topic><topic>Sequence Deletion</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Durham-Pierre, Donna</creatorcontrib><creatorcontrib>King, Richard A.</creatorcontrib><creatorcontrib>Naber, John M.</creatorcontrib><creatorcontrib>Laken, Steve</creatorcontrib><creatorcontrib>Brilliant, Murray H.</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>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human mutation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Durham-Pierre, Donna</au><au>King, Richard A.</au><au>Naber, John M.</au><au>Laken, Steve</au><au>Brilliant, Murray H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans</atitle><jtitle>Human mutation</jtitle><addtitle>Hum. Mutat</addtitle><date>1996</date><risdate>1996</risdate><volume>7</volume><issue>4</issue><spage>370</spage><epage>373</epage><pages>370-373</pages><issn>1059-7794</issn><eissn>1098-1004</eissn><abstract>Oculocutaneous albinism (OCA) is a heterogeneous genetic disorder characterized by hypopigmentation of the hair, skin, and eyes and is associated with the ocular features of nystagmus, reduced visual acuity, and misrouting of the optic fibers at the chiasm. OCA1 or tyrosinase-related OCA results from mutations of the tyrosinase gene on chromosome 11q. OCA2 or P related OCA results from mutations of the P gene on chromosome 15q that encodes a 110 kDa integral melanosomal membrane protein. OCA2 is the most common form of albinism, especially among African-Americans and Africans. In a previous study, we found a 2.7 kb deletion allele that included a single exon of the P gene. 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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Albinism, Oculocutaneous - ethnology Albinism, Oculocutaneous - genetics Alleles Base Sequence Black or African American Black People - genetics Carrier Proteins - genetics DNA Primers Gene Frequency Genetic Carrier Screening Humans Membrane Proteins - genetics Membrane Transport Proteins Molecular Sequence Data Restriction Mapping Sequence Deletion |
| title | Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans |
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