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Updated: Jul 17, 2026

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
Published on: August 25, 2021
[RET gene cys 634 trp mutation in a multiple endocrine neoplasia type 2A kindred]
Zhi-wei Ning1, Ou Wang, Yu Pei
1Department of Endocrinology, PUMC Hospital, CAMS and PUMC, Beijing 100730, China. ningzhiwei@medmail.com.cn
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.
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