RET gene cys 634 trp mutation in a multiple endocrine neoplasia type 2A kindred
OBJECTIVE: To identify the genotype of RET gene in one multiple endocrine neoplasia type 2A (MEN2A) kindred.
METHODS: Genome DNA was extracted from peripheral blood leucocytes. The DNA sequence of gel-purified polymerase chain reaction (PCR) products was determined with the previously reported 6 pairs of primers of PCR amplification of 10, 11, 13, 14, 15, and 16 exons of RETgene.
RESULTS: No abnormalities were found in exon 10, 13, 14, 15, and 16. C to G replacement in nucleotide 14 996 of exon 11 was identified in DNA samples obtained from both peripheral blood of 2 affected brothers. This missense point mutation arisen in heterozygosity and caused a substitution of Cys to Trp residue at codon 634 ( Cys 634 Trp) in RET protein.
CONCLUSION: The genotype of the family is identified as Cys 634 Trp substitution of RET gene.
| Medienart: |
Artikel |
|---|
| Erscheinungsjahr: |
2006 |
|---|---|
| Erschienen: |
2006 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:28 |
|---|---|
| Enthalten in: |
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae - 28(2006), 6 vom: 18. Dez., Seite 799-802 |
| Sprache: |
Chinesisch |
|---|
| Beteiligte Personen: |
Ning, Zhi-wei [VerfasserIn] |
|---|
| Themen: |
EC 2.7.10.1 |
|---|
| Anmerkungen: |
Date Completed 10.07.2007 Date Revised 19.11.2009 published: Print Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM168038587 |
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|---|---|---|---|
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| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a chi | ||
| 100 | 1 | |a Ning, Zhi-wei |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a RET gene cys 634 trp mutation in a multiple endocrine neoplasia type 2A kindred |
| 264 | 1 | |c 2006 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ohne Hilfsmittel zu benutzen |b n |2 rdamedia | ||
| 338 | |a Band |b nc |2 rdacarrier | ||
| 500 | |a Date Completed 10.07.2007 | ||
| 500 | |a Date Revised 19.11.2009 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: To identify the genotype of RET gene in one multiple endocrine neoplasia type 2A (MEN2A) kindred | ||
| 520 | |a METHODS: Genome DNA was extracted from peripheral blood leucocytes. The DNA sequence of gel-purified polymerase chain reaction (PCR) products was determined with the previously reported 6 pairs of primers of PCR amplification of 10, 11, 13, 14, 15, and 16 exons of RETgene | ||
| 520 | |a RESULTS: No abnormalities were found in exon 10, 13, 14, 15, and 16. C to G replacement in nucleotide 14 996 of exon 11 was identified in DNA samples obtained from both peripheral blood of 2 affected brothers. This missense point mutation arisen in heterozygosity and caused a substitution of Cys to Trp residue at codon 634 ( Cys 634 Trp) in RET protein | ||
| 520 | |a CONCLUSION: The genotype of the family is identified as Cys 634 Trp substitution of RET gene | ||
| 650 | 4 | |a English Abstract | |
| 650 | 4 | |a Journal Article | |
| 650 | 7 | |a Proto-Oncogene Proteins c-ret |2 NLM | |
| 650 | 7 | |a EC 2.7.10.1 |2 NLM | |
| 700 | 1 | |a Wang, Ou |e verfasserin |4 aut | |
| 700 | 1 | |a Pei, Yu |e verfasserin |4 aut | |
| 700 | 1 | |a Meng, Xun-wu |e verfasserin |4 aut | |
| 700 | 1 | |a Xing, Xiao-ping |e verfasserin |4 aut | |
| 700 | 1 | |a Xia, Wei-Bo |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Mei |e verfasserin |4 aut | |
| 700 | 1 | |a Zhou, Xue-ying |e verfasserin |4 aut | |
| 700 | 1 | |a Zeng, Zheng-pei |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae |d 1989 |g 28(2006), 6 vom: 18. Dez., Seite 799-802 |w (DE-627)NLM000964042 |x 1000-503X |7 nnns |
| 773 | 1 | 8 | |g volume:28 |g year:2006 |g number:6 |g day:18 |g month:12 |g pages:799-802 |
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| 952 | |d 28 |j 2006 |e 6 |b 18 |c 12 |h 799-802 | ||