Screening for EXT1 and EXT2 gene mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple exostoses
OBJECTIVE: To screen for potential mutations in an ethnic Han Chinese family from Shanxi with hereditary multiple exostoses.
METHODS: Polymerase chain reaction and DNA sequencing were used to screen potential mutations in EXT1 and EXT2 genes.
RESULTS: For EXT1 gene, two synonymous mutations (P477P and E587E), three intronic mutations (c.1537 -48A>G, c.1721 +203A>G and c.1722 -103C>G) were detected. For EXT2 gene, five intronic mutations (c.-29 -148A>T, c.1080 -18T>A, c.1336 -93C>T, c.1526 -166C>T, and c.1526 -195C>T) were identified. Among these, EXT1 P477P, EXT1 E587E and EXT2 c.1080 -18T>A are polymorphisms listed by Multiple Osteochondroma Mutation Database, whilst the other 7 sites have not been reported.
CONCLUSION: No mutations have been found among all exons of the EXT1 and EXT2 genes in this family. Linkage analysis is necessary for identifying the cause of this disease.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2013 |
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| Erschienen: |
2013 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:30 |
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| Enthalten in: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 30(2013), 1 vom: 24. Feb., Seite 95-8 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Zhou, Yong-an [VerfasserIn] |
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| Links: |
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| Themen: |
EC 2.4.1.- |
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| Anmerkungen: |
Date Completed 26.07.2013 Date Revised 07.12.2022 published: Print Citation Status MEDLINE |
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| doi: |
10.3760/cma.j.issn.1003-9406.2013.01.023 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM225416441 |
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| 245 | 1 | 0 | |a Screening for EXT1 and EXT2 gene mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple exostoses |
| 264 | 1 | |c 2013 | |
| 336 | |a Text |b txt |2 rdacontent | ||
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| 500 | |a Date Completed 26.07.2013 | ||
| 500 | |a Date Revised 07.12.2022 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: To screen for potential mutations in an ethnic Han Chinese family from Shanxi with hereditary multiple exostoses | ||
| 520 | |a METHODS: Polymerase chain reaction and DNA sequencing were used to screen potential mutations in EXT1 and EXT2 genes | ||
| 520 | |a RESULTS: For EXT1 gene, two synonymous mutations (P477P and E587E), three intronic mutations (c.1537 -48A>G, c.1721 +203A>G and c.1722 -103C>G) were detected. For EXT2 gene, five intronic mutations (c.-29 -148A>T, c.1080 -18T>A, c.1336 -93C>T, c.1526 -166C>T, and c.1526 -195C>T) were identified. Among these, EXT1 P477P, EXT1 E587E and EXT2 c.1080 -18T>A are polymorphisms listed by Multiple Osteochondroma Mutation Database, whilst the other 7 sites have not been reported | ||
| 520 | |a CONCLUSION: No mutations have been found among all exons of the EXT1 and EXT2 genes in this family. Linkage analysis is necessary for identifying the cause of this disease | ||
| 650 | 4 | |a Journal Article | |
| 650 | 7 | |a N-Acetylglucosaminyltransferases |2 NLM | |
| 650 | 7 | |a EC 2.4.1.- |2 NLM | |
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| 700 | 1 | |a Ma, Yun-xia |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Yong-hong |e verfasserin |4 aut | |
| 700 | 1 | |a Hao, Zi-qi |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Xue-jing |e verfasserin |4 aut | |
| 700 | 1 | |a Shi, Yi-yu |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Quan-bin |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Peng-li |e verfasserin |4 aut | |
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