Mitochondrial DNA variations in patients with Type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population. Mutation in brief no. 239. Online.

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

doi:10.1002/(sici)1098-1004(1999)13:5<412::aid-humu13>3.0.co;2-n

Mitochondrial DNA variations in patients with Type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population. Mutation in brief no. 239. Online.

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

^*Awdur cyfatebol y gwaith hwn

Ysgol Chwaraeon a Gwyddorau Iechyd Caerdydd

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

6 Dyfyniadau (Scopus)

Crynodeb

Type 2 (non-insulin dependent) diabetes mellitus may be inherited along the maternal line and a variety of mitochondrial DNA (mtDNA) variants have been implicated in the pathogenesis. We have previously reported mutations in five regions of the mitochondrial genome which encompass 11 of the 22 tRNA genes. Now we employ the technique of single stranded conformational polymorphism (SSCP) analysis to investigate a further 6 regions of the mitochondrial genome, covering the remaining 11 tRNA genes in 40 patients with Type 2 diabetes and 30 racially-matched normal controls. A variety of homoplasmic mutations were detected in patients with diabetes and these will be of value in further population association studies.

Iaith wreiddiol	Saesneg
Tudalennau (o-i)	412-413
Nifer y tudalennau	2
Cyfnodolyn	Human mutation
Cyfrol	13
Rhif cyhoeddi	5
Dynodwyr Gwrthrych Digidol (DOIs)	https://doi.org/10.1002/(sici)1098-1004(1999)13:5<412::aid-humu13>3.0.co;2-n
Statws	Cyhoeddwyd - 20 Mai 1999

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

10.1002/(sici)1098-1004(1999)13:5<412::aid-humu13>3.0.co;2-nTrwydded: Free Access

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Dolen i’r cyhoeddiad yn Scopus

Dyfynnu hyn

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abstract = "Type 2 (non-insulin dependent) diabetes mellitus may be inherited along the maternal line and a variety of mitochondrial DNA (mtDNA) variants have been implicated in the pathogenesis. We have previously reported mutations in five regions of the mitochondrial genome which encompass 11 of the 22 tRNA genes. Now we employ the technique of single stranded conformational polymorphism (SSCP) analysis to investigate a further 6 regions of the mitochondrial genome, covering the remaining 11 tRNA genes in 40 patients with Type 2 diabetes and 30 racially-matched normal controls. A variety of homoplasmic mutations were detected in patients with diabetes and these will be of value in further population association studies.",

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AU - Majid, A.

AU - Alcolado, J. C.

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AB - Type 2 (non-insulin dependent) diabetes mellitus may be inherited along the maternal line and a variety of mitochondrial DNA (mtDNA) variants have been implicated in the pathogenesis. We have previously reported mutations in five regions of the mitochondrial genome which encompass 11 of the 22 tRNA genes. Now we employ the technique of single stranded conformational polymorphism (SSCP) analysis to investigate a further 6 regions of the mitochondrial genome, covering the remaining 11 tRNA genes in 40 patients with Type 2 diabetes and 30 racially-matched normal controls. A variety of homoplasmic mutations were detected in patients with diabetes and these will be of value in further population association studies.

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