Identification of MEN1 gene mutations in families with MEN 1 and related disorders.
Identification of MEN1 gene mutations in families with MEN 1 and related disorders.
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DOI：
10.1054/bjoc.2000.1380
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发表时间：
2000-10
影响因子：
8.8
通讯作者：
Hayward N
中科院分区：
文献类型：
--
作者：
Bergman L;Teh B;Cardinal J;Palmer J;Walters M;Shepherd J;Cameron D;Hayward N
在MEN 1基因鉴定后，我们分析了来自12个MEN 1家族的患者，8例MEN 1散发病例和13例MEN 1样症状患者（例如家族性孤立性甲状旁腺功能亢进症（FIHPT），家族性肢端肥大症或非典型MEN 1病例）是否存在生殖系MEN 1突变。对MEN 1基因的整个编码区进行测序，在11个MEN 1家族中检测到突变; 1例散发性MEN 1患者，1例FIHPT和1例MEN 1样病例。用几种限制性内切酶消化来自没有MEN 1突变的个体的组成DNA样品，Southern印迹并用MEN 1 cDNA探测以分析不能通过PCR检测的MEN 1基因的较大缺失的存在。发现一名MEN 1患者携带这种缺失。该患者的D418 D多态性为杂合型，但RT-PCR产物的序列分析显示，只有变体等位基因被转录，从而证实了Southern分析获得的结果，这表明包含一个等位基因起始密码子的区域丢失。2000癌症研究运动
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. © 2000 Cancer Research Campaign
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影响因子：
64.8
作者：
LARSSON, C;SKOGSEID, B;NORDENSKJOLD, M
通讯作者：
NORDENSKJOLD, M
影响因子：
64.5
作者：
Agarwal, SK;Guru, SC;Burns, AL
通讯作者：
Burns, AL
影响因子：
3.5
作者：
Agarwal, SK;Kester, MB;Marx, SJ
通讯作者：
Marx, SJ
影响因子：
--
作者：
Darling, TN;Skarulis, MC;Turner, M
通讯作者：
Turner, M
影响因子：
9.8
作者：
Giraud, S;Zhang, CX;Calender, A
通讯作者：
Calender, A