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Identification of MEN1 gene mutations in families with MEN 1 and related disorders.
Br J Cancer. 2000 Oct; 83(8):1009-14.BJ

Abstract

Following identification of the MEN1 gene, we analysed patients from 12 MEN 1 families, 8 sporadic cases of MEN 1, and 13 patients with MEN 1-like symptoms (e.g. cases of familial isolated hyperparathyroidism (FIHPT), familial acromegaly, or atypical MEN 1 cases) for the presence of germline MEN1 mutations. The entire coding region of the MEN1 gene was sequenced, and mutations were detected in 11 MEN 1 families; one sporadic MEN 1 patient, one case of FIHPT and one MEN 1-like case. Constitutional DNA samples from individuals without MEN1 mutations were digested with several restriction enzymes, Southern blotted and probed with MEN1 cDNA to analyse for the presence of larger deletions of the MEN1 gene unable to be detected by PCR. One MEN 1 patient was found to carry such a deletion. This patient was heterozygous for the D418D polymorphism, however sequence analysis of RT-PCR products showed that only the variant allele was transcribed, thus confirming the result obtained by Southern analysis, which indicated loss of a region containing the initiation codon of one allele.

Authors+Show Affiliations

Queensland Cancer Fund Research Unit, Joint Experimental Oncology Programme of the Queensland Institute of Medical Research and the University of Queensland, Herston, QLD, 4006, Australia.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10993647

Citation

Bergman, L, et al. "Identification of MEN1 Gene Mutations in Families With MEN 1 and Related Disorders." British Journal of Cancer, vol. 83, no. 8, 2000, pp. 1009-14.
Bergman L, Teh B, Cardinal J, et al. Identification of MEN1 gene mutations in families with MEN 1 and related disorders. Br J Cancer. 2000;83(8):1009-14.
Bergman, L., Teh, B., Cardinal, J., Palmer, J., Walters, M., Shepherd, J., Cameron, D., & Hayward, N. (2000). Identification of MEN1 gene mutations in families with MEN 1 and related disorders. British Journal of Cancer, 83(8), 1009-14.
Bergman L, et al. Identification of MEN1 Gene Mutations in Families With MEN 1 and Related Disorders. Br J Cancer. 2000;83(8):1009-14. PubMed PMID: 10993647.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of MEN1 gene mutations in families with MEN 1 and related disorders. AU - Bergman,L, AU - Teh,B, AU - Cardinal,J, AU - Palmer,J, AU - Walters,M, AU - Shepherd,J, AU - Cameron,D, AU - Hayward,N, PY - 2000/9/20/pubmed PY - 2001/2/28/medline PY - 2000/9/20/entrez SP - 1009 EP - 14 JF - British journal of cancer JO - Br J Cancer VL - 83 IS - 8 N2 - Following identification of the MEN1 gene, we analysed patients from 12 MEN 1 families, 8 sporadic cases of MEN 1, and 13 patients with MEN 1-like symptoms (e.g. cases of familial isolated hyperparathyroidism (FIHPT), familial acromegaly, or atypical MEN 1 cases) for the presence of germline MEN1 mutations. The entire coding region of the MEN1 gene was sequenced, and mutations were detected in 11 MEN 1 families; one sporadic MEN 1 patient, one case of FIHPT and one MEN 1-like case. Constitutional DNA samples from individuals without MEN1 mutations were digested with several restriction enzymes, Southern blotted and probed with MEN1 cDNA to analyse for the presence of larger deletions of the MEN1 gene unable to be detected by PCR. One MEN 1 patient was found to carry such a deletion. This patient was heterozygous for the D418D polymorphism, however sequence analysis of RT-PCR products showed that only the variant allele was transcribed, thus confirming the result obtained by Southern analysis, which indicated loss of a region containing the initiation codon of one allele. SN - 0007-0920 UR - https://www.unboundmedicine.com/medline/citation/10993647/Identification_of_MEN1_gene_mutations_in_families_with_MEN_1_and_related_disorders_ L2 - https://doi.org/10.1054/bjoc.2000.1380 DB - PRIME DP - Unbound Medicine ER -