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Mutation analysis in two Chinese families with multiple endocrine neoplasia type 1 / Análise de mutações em duas famílias chinesas com neoplasia endócrina múltipla tipo 1
Wen, Zhang; Liao, Quan; Hu, Ya; Zhao, Yupei.
  • Wen, Zhang; Tsinghua University. Department of General Surgery.
  • Liao, Quan; Tsinghua University. Department of General Surgery.
  • Hu, Ya; Tsinghua University. Department of General Surgery.
  • Zhao, Yupei; Tsinghua University. Department of General Surgery.
Arq. bras. endocrinol. metab ; 56(3): 184-189, Apr. 2012. ilus, tab
Article in English | LILACS | ID: lil-626270
ABSTRACT

OBJECTIVE:

This study aimed at identifing mutations in two Chinese genealogies with MEN1. SUBJECTS AND

METHODS:

Three members of two Chinese families with MEN1 were enrolled in this study, and all of the coding regions and adjacent sequences of the MEN1 gene were amplified and sequenced.

RESULTS:

A recurrent mutation of heterozygous change T>A at IVS 4+1 was found in family I, and a novel insGAGGTGG mutation (c.703-709dup7bp) resulted in a frameshift (p.A237Gfsx13) in family II.

CONCLUSION:

We are able to add a new mutation of MEN1 gene in Chinese patients with MEN1 that will be useful for the diagnosis and treatment of the disease.
RESUMO

OBJETIVO:

O objetivo deste estudo foi identificar as mutações em duas famílias chinesas com NEM1. SUJEITOS E

MÉTODOS:

Três membros das duas famílias chinesas foram estudados. Em todos eles, as regiões codificadoras e sequências adjacentes do gene MEN1 foram amplificadas e sequenciadas.

RESULTADOS:

Uma alteração heterozigota recorrente de T>A em IVS 4+1 foi encontrada na família I, e uma nova mutação insGAGGTGG (c.703-709dup7bp) levou a um frameshift (p.A237Gfsx13) na família II.

CONCLUSÃO:

Adicionou-se uma nova mutação ao gene MEN1 em pacientes chineses com diagnóstico de NEM1 que vai ser útil no diagnóstico e tratamento da doença.
Subject(s)


Full text: Available Index: LILACS (Americas) Main subject: Parathyroid Neoplasms / Point Mutation / Germ-Line Mutation / Multiple Endocrine Neoplasia Type 1 Limits: Female / Humans Country/Region as subject: Asia Language: English Journal: Arq. bras. endocrinol. metab Journal subject: Endocrinology / Metabolism Year: 2012 Type: Article Affiliation country: China

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Full text: Available Index: LILACS (Americas) Main subject: Parathyroid Neoplasms / Point Mutation / Germ-Line Mutation / Multiple Endocrine Neoplasia Type 1 Limits: Female / Humans Country/Region as subject: Asia Language: English Journal: Arq. bras. endocrinol. metab Journal subject: Endocrinology / Metabolism Year: 2012 Type: Article Affiliation country: China