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A multiple endocrine neoplasia type 2A pedigrees ret proto-oncogene mutation detection and Related Discussion

Author: MaYan
Tutor: JiQiuHe；ZhangNanYan
School: Fourth Military Medical University
Course: Internal Medicine
Keywords: Multiple endocrine neoplasia type 2A ret proto-oncogene Gene mutation Immunohistochemistry
CLC: R736
Type: Master's thesis
Year: 2008
Downloads: 40
Quote: 0
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Abstract


Objective multiple endocrine neoplasia type 2 (Multiple endocrine neoplasia type 2, MEN2) is a kind of thyroid, adrenal medulla and neuroendocrine cell hyperplasia of parathyroid neoplasia or autosomal dominant genetic disease. Ret gene mutation for help early diagnosis of the disease and found that carriers of disease genes, screened positive were given early intervention can significantly alter the clinical outcome. Based on a MEN2A pedigrees ret gene mutations in order to identify the genotype of pathogenic causes the family, and through the ret proto-oncogene protein immunohistochemical staining was observed in this family ret protein parathyroid adenoma tissues situation. Methods The subjects were a family of 19 MEN2A famous faculty members. 1 famous faculty members on 19 10th and ret gene exon 11 were amplified by the PCR products were purified and sequenced in both directions to determine the sequence results via the Internet on the website of the NCBI BLAST program with ret gene DNA and cDNA sequences comparison, if the display is abnormal, further human gene mutation database (HGMD) for comparing query gene mutations, mutation is still displayed, repeat the sequence four times. (2) by immunohistochemistry SP method to compare this family in a parathyroid adenoma in patients with MEN2A parathyroid adenoma tissues and simple adenoma ret protein expression differences. 3 of the 19 members of the family underwent thyroid, parathyroid, adrenal B ultrasound and bone density examination and calcium, phosphorus, and parathyroid hormone carcinoembryonic antigen detection, in order to understand genotype and phenotype relationships and find new MEN2A patients. Results 1. Ret gene exon 11 of 14,994 nucleotides under normal circumstances homozygous T. Sequence analysis showed that the pedigrees MEN2A proband (II-9) to TC heterozygous TGC codon 634 mutation CGC, which corresponds to the amino acid arginine is replaced by a cysteine ??(Cys634Arg); 15165-bit core Under normal circumstances guanylate homozygous G, the proband was heterozygous GA, codon 691 was GGT-AGT single nucleotide polymorphisms, which corresponds to the amino acid glycine is replaced by a serine (Gly691Ser). Proband brother (II-5), sister (II-7) and nephew (Ⅲ -6) ret gene sequencing results with all of the same proband. Family members (Ⅲ -5) only 691 children were GGT-AGT coding single nucleotide polymorphisms. The remaining family members of exon 11 was no exception, all the family members of the first exon 10 were normal. 2 Immunohistochemical results showed that: 1 MEN2A patients (II-5, the proband brother) parathyroid adenoma tissue ret-positive cells and the degree of coloration was significantly higher than in patients with parathyroid adenoma. 3 by B-ultrasound also found that family members (II-5) bilateral thyroid, adrenal glands and the side of the side of a solid mass of parathyroid lesions, member (II-9) bilateral thyroid and adrenal glands on one side there are real space occupying lesions, member (Ⅲ -6) bilateral thyroid, adrenal glands and the side of the side of a solid mass of parathyroid lesions, member (II-7) bilateral thyroid, adrenal and parathyroid side There are solid lesions, member (Ⅲ -5) only multiple thyroid nodules. In addition there are three members of the B-ultrasound abnormalities, but the determination of gene sequences without mutations. Conclusion 1. Ret gene sequence analysis showed that: this pedigree 4 MEN2A patients (II-5, II-7, II-9, Ⅲ -6) are present ret proto-oncogene in exon 11 Cys (TGC) 634Arg ( CGC) missense mutations and Gly (GGT) 691Ser (AGT) single nucleotide polymorphisms coexist, no such two point mutations in members without the disease, show ret proto-oncogene in exon 11 Cys (TGC) 634Arg (CGC) missense mutations and Gly (GGT) 691Ser (AGT) coexist for a single nucleotide polymorphism in patients with MEN2A pedigrees causative gene. (2) Members (Ⅲ -5) exists only ret proto-oncogene in exon 11 Gly (GGT) 691Ser (AGT), single nucleotide polymorphisms, which may be unaffected mutation carriers should be observed, and follow-up. 3 and a single parathyroid adenoma compared with patients, MEN2A parathyroid adenoma patients ret proto-oncogene expression may be enhanced. 4 In this study, the clinical examination and screening for disease genes combined, in the family of the two MEN2A newly diagnosed patients, suggesting that clinical examination combined with the causative gene screening helps find new patients pedigrees, for the Early diagnosis and treatment help.

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