A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China
Background The mutation of the tyrosinase （TYR） gene results in oculocutaneous albinism type 1 （OCA1）, an autosomal recessive genetic disorder. OCA1 is the most common type of OCA in the Chinese population. Hence, the TYR gene was tested in this study. We also delineated the genetic analysis of OCA1...
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| Veröffentlicht in: | Chinese medical journal 2011-10, Vol.124 (20), p.3358-3361 |
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| creator | Lin, Yu-Ying Wei, Ai-Hua Zhou, Zhi-Yong Zhu, Wei He, Xin Lian, Shi |
| description | Background The mutation of the tyrosinase （TYR） gene results in oculocutaneous albinism type 1 （OCA1）, an autosomal recessive genetic disorder. OCA1 is the most common type of OCA in the Chinese population. Hence, the TYR gene was tested in this study. We also delineated the genetic analysis of OCA1 in a Chinese family. Methods Genomic DNA was isolated from the blood leukocytes of a proband and his family. Mutational analysis at the TYR locus by DNA sequencing was used to screen five exons, including the intron/exon junctions. A pedigree chart was drawn and the fundus of the eyes of the proband was also examined. Results A novel missense mutation p.1151S on exon 1, and homozygous TYR mutant alleles were identified in the proband. None of the mutants was identified among the 100 normal control subjects. Genetic analysis of the proband＇s wife showed normal alleles in the TYR gene. Thus, the fetus was predicated a carrier of OCA1 with a normal appearance. Conclusion This study provided new information about a novel mutation, p.1151S, in the TYR gene in a Chinese family with OCAI. Further investigation of the proband would be helpful to determine the effects of this mutation on TYR activity. |
| doi_str_mv | 10.3760/cma.j.issn.0366-6999.2011.20.027 |
| format | Article |
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OCA1 is the most common type of OCA in the Chinese population. Hence, the TYR gene was tested in this study. We also delineated the genetic analysis of OCA1 in a Chinese family. Methods Genomic DNA was isolated from the blood leukocytes of a proband and his family. Mutational analysis at the TYR locus by DNA sequencing was used to screen five exons, including the intron/exon junctions. A pedigree chart was drawn and the fundus of the eyes of the proband was also examined. Results A novel missense mutation p.1151S on exon 1, and homozygous TYR mutant alleles were identified in the proband. None of the mutants was identified among the 100 normal control subjects. Genetic analysis of the proband＇s wife showed normal alleles in the TYR gene. Thus, the fetus was predicated a carrier of OCA1 with a normal appearance. Conclusion This study provided new information about a novel mutation, p.1151S, in the TYR gene in a Chinese family with OCAI. Further investigation of the proband would be helpful to determine the effects of this mutation on TYR activity.</description><identifier>ISSN: 0366-6999</identifier><identifier>EISSN: 2542-5641</identifier><identifier>DOI: 10.3760/cma.j.issn.0366-6999.2011.20.027</identifier><identifier>PMID: 22088535</identifier><language>eng</language><publisher>China: Department of Dermatology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China%Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China%Key Laboratory of Molecular and Developmental Biology,Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China</publisher><subject>Adult ; Albinism, Oculocutaneous - genetics ; Asian Continental Ancestry Group ; Female ; Genotype ; Humans ; Male ; Monophenol Monooxygenase - genetics ; Mutation, Missense - genetics ; Pedigree ; YR基因 ; 中国人口 ; 基因突变 ; 基因组DNA ; 白化病 ; 皮肤 ; 类型 ; 血统</subject><ispartof>Chinese medical journal, 2011-10, Vol.124 (20), p.3358-3361</ispartof><rights>Copyright © Wanfang Data Co. Ltd. All Rights Reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Uhttp://image.cqvip.com/vip1000/qk/85656X/85656X.jpg</thumbnail><link.rule.ids>314,778,782,862,27911,27912</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22088535$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lin, Yu-Ying</creatorcontrib><creatorcontrib>Wei, Ai-Hua</creatorcontrib><creatorcontrib>Zhou, Zhi-Yong</creatorcontrib><creatorcontrib>Zhu, Wei</creatorcontrib><creatorcontrib>He, Xin</creatorcontrib><creatorcontrib>Lian, Shi</creatorcontrib><title>A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China</title><title>Chinese medical journal</title><addtitle>Chinese Medical Journal</addtitle><description>Background The mutation of the tyrosinase （TYR） gene results in oculocutaneous albinism type 1 （OCA1）, an autosomal recessive genetic disorder. OCA1 is the most common type of OCA in the Chinese population. Hence, the TYR gene was tested in this study. We also delineated the genetic analysis of OCA1 in a Chinese family. Methods Genomic DNA was isolated from the blood leukocytes of a proband and his family. Mutational analysis at the TYR locus by DNA sequencing was used to screen five exons, including the intron/exon junctions. A pedigree chart was drawn and the fundus of the eyes of the proband was also examined. Results A novel missense mutation p.1151S on exon 1, and homozygous TYR mutant alleles were identified in the proband. None of the mutants was identified among the 100 normal control subjects. Genetic analysis of the proband＇s wife showed normal alleles in the TYR gene. Thus, the fetus was predicated a carrier of OCA1 with a normal appearance. Conclusion This study provided new information about a novel mutation, p.1151S, in the TYR gene in a Chinese family with OCAI. Further investigation of the proband would be helpful to determine the effects of this mutation on TYR activity.</description><subject>Adult</subject><subject>Albinism, Oculocutaneous - genetics</subject><subject>Asian Continental Ancestry Group</subject><subject>Female</subject><subject>Genotype</subject><subject>Humans</subject><subject>Male</subject><subject>Monophenol Monooxygenase - genetics</subject><subject>Mutation, Missense - genetics</subject><subject>Pedigree</subject><subject>YR基因</subject><subject>中国人口</subject><subject>基因突变</subject><subject>基因组DNA</subject><subject>白化病</subject><subject>皮肤</subject><subject>类型</subject><subject>血统</subject><issn>0366-6999</issn><issn>2542-5641</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo9kEtP3DAUhS0EgintX0BmA90k9fMmXqJRaSshIVWz6SqyMzcTjxJ7iJMi-PW4GujiPhafztE5hHzlrJQVsG_taMt96VMKJZMABRhjSsE4z6tkojohK6GVKDQofkpW_5kL8imlPWNC6wrOyYUQrK611CvS3dEQ_-JAx6yKISEdl9nOPgYaOzr3SDd_ftMdBqQ-UEsPuPW7CZE--7mnsV2GPLMNGJdE7eB88Gmk88sBKafdFEe67n2wn8lZZ4eEX97vJdncf9-sfxYPjz9-re8eilZANRegHK9bjZarLXNdVSmpQOHWCsU76RxIVJZ3BlAzqRzk3xoD0oFztQZ5SW6Oss82dDbsmn1cppANm9e-Hff_mhK5hSqDt0fwMMWnBdPc5PwtDsMxSWOYhooZUJm8eicXN-K2OUx-tNNL81FhBq6PQNvHsHvy2fWDkaYGLmsp3wDEe4Jg</recordid><startdate>201110</startdate><enddate>201110</enddate><creator>Lin, Yu-Ying</creator><creator>Wei, Ai-Hua</creator><creator>Zhou, Zhi-Yong</creator><creator>Zhu, Wei</creator><creator>He, Xin</creator><creator>Lian, Shi</creator><general>Department of Dermatology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China%Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China%Key Laboratory of Molecular and Developmental Biology,Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China</general><scope>2RA</scope><scope>92L</scope><scope>CQIGP</scope><scope>W91</scope><scope>~WA</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope><scope>2B.</scope><scope>4A8</scope><scope>92I</scope><scope>93N</scope><scope>PSX</scope><scope>TCJ</scope></search><sort><creationdate>201110</creationdate><title>A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China</title><author>Lin, Yu-Ying ; Wei, Ai-Hua ; Zhou, Zhi-Yong ; Zhu, Wei ; He, Xin ; Lian, Shi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c267t-64b18c5ea14d0bf7743464eda241f3bb63e4a1f96e5034b6a1fa9963b6bb8563</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Adult</topic><topic>Albinism, Oculocutaneous - genetics</topic><topic>Asian Continental Ancestry Group</topic><topic>Female</topic><topic>Genotype</topic><topic>Humans</topic><topic>Male</topic><topic>Monophenol Monooxygenase - genetics</topic><topic>Mutation, Missense - genetics</topic><topic>Pedigree</topic><topic>YR基因</topic><topic>中国人口</topic><topic>基因突变</topic><topic>基因组DNA</topic><topic>白化病</topic><topic>皮肤</topic><topic>类型</topic><topic>血统</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lin, Yu-Ying</creatorcontrib><creatorcontrib>Wei, Ai-Hua</creatorcontrib><creatorcontrib>Zhou, Zhi-Yong</creatorcontrib><creatorcontrib>Zhu, Wei</creatorcontrib><creatorcontrib>He, Xin</creatorcontrib><creatorcontrib>Lian, Shi</creatorcontrib><collection>中文科技期刊数据库</collection><collection>中文科技期刊数据库-CALIS站点</collection><collection>中文科技期刊数据库-7.0平台</collection><collection>中文科技期刊数据库-医药卫生</collection><collection>中文科技期刊数据库- 镜像站点</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><collection>Wanfang Data Journals - Hong Kong</collection><collection>WANFANG Data Centre</collection><collection>Wanfang Data Journals</collection><collection>万方数据期刊 - 香港版</collection><collection>China Online Journals (COJ)</collection><collection>China Online Journals (COJ)</collection><jtitle>Chinese medical journal</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lin, Yu-Ying</au><au>Wei, Ai-Hua</au><au>Zhou, Zhi-Yong</au><au>Zhu, Wei</au><au>He, Xin</au><au>Lian, Shi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China</atitle><jtitle>Chinese medical journal</jtitle><addtitle>Chinese Medical Journal</addtitle><date>2011-10</date><risdate>2011</risdate><volume>124</volume><issue>20</issue><spage>3358</spage><epage>3361</epage><pages>3358-3361</pages><issn>0366-6999</issn><eissn>2542-5641</eissn><abstract>Background The mutation of the tyrosinase （TYR） gene results in oculocutaneous albinism type 1 （OCA1）, an autosomal recessive genetic disorder. OCA1 is the most common type of OCA in the Chinese population. Hence, the TYR gene was tested in this study. We also delineated the genetic analysis of OCA1 in a Chinese family. Methods Genomic DNA was isolated from the blood leukocytes of a proband and his family. Mutational analysis at the TYR locus by DNA sequencing was used to screen five exons, including the intron/exon junctions. A pedigree chart was drawn and the fundus of the eyes of the proband was also examined. Results A novel missense mutation p.1151S on exon 1, and homozygous TYR mutant alleles were identified in the proband. None of the mutants was identified among the 100 normal control subjects. Genetic analysis of the proband＇s wife showed normal alleles in the TYR gene. Thus, the fetus was predicated a carrier of OCA1 with a normal appearance. Conclusion This study provided new information about a novel mutation, p.1151S, in the TYR gene in a Chinese family with OCAI. Further investigation of the proband would be helpful to determine the effects of this mutation on TYR activity.</abstract><cop>China</cop><pub>Department of Dermatology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China%Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China%Key Laboratory of Molecular and Developmental Biology,Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China</pub><pmid>22088535</pmid><doi>10.3760/cma.j.issn.0366-6999.2011.20.027</doi><tpages>4</tpages></addata></record> |
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| subjects | Adult Albinism, Oculocutaneous - genetics Asian Continental Ancestry Group Female Genotype Humans Male Monophenol Monooxygenase - genetics Mutation, Missense - genetics Pedigree YR基因 中国人口 基因突变 基因组DNA 白化病 皮肤 类型 血统 |
| title | A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China |
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