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  4. Establish The Mode of The Genetic Counseling in Maturity-Onset Diabetes of The Young in Taiwan
 
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Establish The Mode of The Genetic Counseling in Maturity-Onset Diabetes of The Young in Taiwan

Date Issued
2007
Date
2007
Author(s)
Wu, I-Lin
DOI
zh-TW
URI
http://ntur.lib.ntu.edu.tw//handle/246246/51326
Abstract
Maturity onset diabetes of the young (MODY) is a autosomal dominant inheritance disease and the six subtypes are caused by six different genes. The glucokinase (GCK) is associated with MODY 2. The others are transcription factors: hepatocyte nuclear factor-4α (HNF-4α, MODY1), HNF-1α (MODY3), HNF-1β (MODY5), insulin promoter factor 1 (IPF-1, MODY4) and neurogenic differentation factor 1 (NeuroD1, MODY6). The mutations of all these genes lead to the pancreatic β-cell dysfunction and diabetes. The difference in clinical phenotypes between MODY and type 2 diabetes are the transmission of diabetes through at least two generations in a family, ideally two family members diagnosed before 25 years unlike type 2 diabetes, MODY is rarely associated with obesity. Our aim was to initiate a genetic diagnosis and counseling protocol in Taiwan. The case is one of four MODY patients in two generations in the family. Previously, we have examined the HNF-1α and NeuroD1. Thus, the coding regions with intron-exon site of four other genes including GCK, HNF-4α, HNF-1β and IPF-1 were examined by polymerase chain reaction (PCR) and direct sequencing. Besides, four normal elderly control were tested for the mutation found in the exon 9 of HNF-1α before by PCR and direct sequencing. There is no novel mutation within these genes. It is important to set up the format for genetic testing and genetic counseling for MODY in Taiwan.
Subjects
年輕型糖尿病
胰島素
遺傳諮詢
醣解酵素
轉錄因子
Maturity onset diabetes of the young
insulin
genetic counseling
glucokinase
transcription factor
SDGs

[SDGs]SDG3

Type
other
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ntu-96-P94448009-1.pdf

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