当前位置： SCI文献检索 > JOURNAL OF PEDIATRIC SURGERY期刊下所有文献 > Prediction of affected MEN2A gene carriers by DNA linkage analysis for early total thyroidectomy: a progress in clinical screening program for children with hereditary cancer syndrome.

Prediction of affected MEN2A gene carriers by DNA linkage analysis for early total thyroidectomy: a progress in clinical screening program for children with hereditary cancer syndrome.

Abstract：

:The gene predisposing to multiple endocrine neoplasia type 2A (MEN 2A) has been assigned to chromosome 10, and affected gene carriers can be identified before the development of associated malignancy in some informative families. We applied these advances in gene mapping to clinical screening for possible pediatric surgery. A family with MEN 2A, consisting of 88 members and their spouses, was studied to test the reliability of the provocation of plasma calcitonin with pentagastrin and the possibility of DNA diagnosis of mutated gene carriers with DNA probes closely linked to the MEN2A gene including RBP3 and FNRB genes. Nineteen of the 88 were diagnosed as MEN 2A carriers. Twelve of them were treated surgically and the others died of medullay thyroid carcinoma (MTC) or pheochromocytoma. A strikingly sensitive response of calcitonin was observed in all those with MTC. The genotypes cosegregating with the abnormal allele at MEN2A in this family could be deduced from clinically established affected members. The early detection of gene carriers allows us to concentrate our screening efforts on children at high risk and to release non gene carriers from repeated unnecessary testing. MEN2A is one of the first cancer syndromes for which DNA screening permits early detection of members at high risk.

journal_name

J Pediatr Surg

journal_title

Journal of pediatric surgery

authors

Shimotake T,Iwai N,Yanagihara J,Tokiwa K,Tanaka N,Yamamoto M,Takai S

doi

10.1016/0022-3468(92)90332-2

subject

Has Abstract

pub_date

1992-04-01 00:00:00

pages

444-6

issue

4

eissn

0022-3468

issn

1531-5037

pii

S0022346892001799

journal_volume

27

pub_type

杂志文章

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