"Cold" single-strand conformational variants for mutation analysis of the RET protooncogene.
"Cold" single-strand conformational variants for mutation analysis of the RET protooncogene.
复制标题
用于 RET 原癌基因突变分析的“冷”单链构象变体。
DOI：
10.1016/s0039-6060(97)90028-3
复制
发表时间：
1997
期刊：
影响因子：
3.8
通讯作者：
Moley,JF
中科院分区：
文献类型：
--
作者：
Musholt,PB;Musholt,TJ;Goodfellow,PJ;Zehnbauer,BA;WellsJr,SA;Moley,JF
BackgroundRET protooncogene mutation analysis is a routinely performed predictive DNA test in kindreds affected by multiple endocrine neoplasia (MEN) types 2A and 2B and familial medullary thyroid carcinoma (FMTC), and is a valuable diagnostic tool in newly diagnosed cases of medullary thyroid carcinoma (MTC).MethodsWe tested the suitability of the recently introduced “cold” single-strand conformational variant (SSCV) technique, which promises rapid, simple, nonradioactive detection of sequence variants in the identification of germline and somatic RET mutations. A total of 11 different mutations in exon 10 (codons 609, 611, 618, and 620) and 6 mutations in exon 11 (codon 634) were studied.ResultsConditions were optimized so that conformational variants were demonstrated for all mutations examined in a single setting for exons 10 and 11. A novel six base pair (bp) inframe deletion between cysteines 630 and 634 was detected in a sporadic MTC. This adds to the evidence that not only cysteine deletions and substitutions but also changes in the spacing between cysteine residues have a pathogenic effect.ConclusionsOur results indicate that the cold SSCV method offers the advantages of simplicity, time savings, and nonradioactive detection for screening for RET sequence variants in hereditary and sporadic MTCs.
