Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus

A. W. Thomas; A. Edwards; E. J. Sherratt; A. Majid; J. Gagg; J. C. Alcolado

doi:10.1136/jmg.33.3.253

Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus

A. W. Thomas
, A. Edwards
, E. J. Sherratt
, A. Majid
, J. Gagg
, J. C. Alcolado^*

^*Awdur cyfatebol y gwaith hwn

Allbwn ymchwil: Cyfraniad at gyfnodolyn › Erthygl › adolygiad gan gymheiriaid

34 Dyfyniadau (Scopus)

Crynodeb

Mitochondrial DNA (mtDNA) gene defects may play a role in the development of non-insulin dependent diabetes mellitus (NIDDM). In order to search for potentially diabetogenic mtDNA defects we have applied the technique of single stranded conformational polymorphism (SSCP) analysis to 124 patients with a history of NIDDM and 40 non-diabetic controls. No new heteroplasmic mutations were detected. However, a variety of homoplasmic variants were found in patients with NIDDM; some of these merit further investigation.

Iaith wreiddiol	Saesneg
Tudalennau (o-i)	253-255
Nifer y tudalennau	3
Cyfnodolyn	Journal of Medical Genetics
Cyfrol	33
Rhif cyhoeddi	3
Dynodwyr Gwrthrych Digidol (DOIs)	https://doi.org/10.1136/jmg.33.3.253
Statws	Cyhoeddwyd - Maw 1996
Cyhoeddwyd yn allanol	Ie

NDC y CU

Mae’r allbwn hwn yn cyfrannu at y Nod(au) Datblygu Cynaliadwy canlynol

NDC 3 Iechyd a Llesiant Da

Mynediad at Ddogfen

10.1136/jmg.33.3.253

Ffeiliau eraill a chysylltiadau

Dolen i’r cyhoeddiad yn Scopus

Dyfynnu hyn

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title = "Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus",

abstract = "Mitochondrial DNA (mtDNA) gene defects may play a role in the development of non-insulin dependent diabetes mellitus (NIDDM). In order to search for potentially diabetogenic mtDNA defects we have applied the technique of single stranded conformational polymorphism (SSCP) analysis to 124 patients with a history of NIDDM and 40 non-diabetic controls. No new heteroplasmic mutations were detected. However, a variety of homoplasmic variants were found in patients with NIDDM; some of these merit further investigation.",

keywords = "Diabetes, MELAS, Mitochondrial DNA",

author = "Thomas, \{A. W.\} and A. Edwards and Sherratt, \{E. J.\} and A. Majid and J. Gagg and Alcolado, \{J. C.\}",

year = "1996",

month = mar,

doi = "10.1136/jmg.33.3.253",

language = "English",

volume = "33",

pages = "253--255",

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TY - JOUR

T1 - Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus

AU - Thomas, A. W.

AU - Edwards, A.

AU - Sherratt, E. J.

AU - Majid, A.

AU - Gagg, J.

AU - Alcolado, J. C.

PY - 1996/3

Y1 - 1996/3

N2 - Mitochondrial DNA (mtDNA) gene defects may play a role in the development of non-insulin dependent diabetes mellitus (NIDDM). In order to search for potentially diabetogenic mtDNA defects we have applied the technique of single stranded conformational polymorphism (SSCP) analysis to 124 patients with a history of NIDDM and 40 non-diabetic controls. No new heteroplasmic mutations were detected. However, a variety of homoplasmic variants were found in patients with NIDDM; some of these merit further investigation.

AB - Mitochondrial DNA (mtDNA) gene defects may play a role in the development of non-insulin dependent diabetes mellitus (NIDDM). In order to search for potentially diabetogenic mtDNA defects we have applied the technique of single stranded conformational polymorphism (SSCP) analysis to 124 patients with a history of NIDDM and 40 non-diabetic controls. No new heteroplasmic mutations were detected. However, a variety of homoplasmic variants were found in patients with NIDDM; some of these merit further investigation.

KW - Diabetes

KW - MELAS

KW - Mitochondrial DNA

UR - https://www.scopus.com/pages/publications/0030030748

U2 - 10.1136/jmg.33.3.253

DO - 10.1136/jmg.33.3.253

M3 - Article

C2 - 8728705

AN - SCOPUS:0030030748

SN - 0022-2593

VL - 33

SP - 253

EP - 255

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 3

ER -