Isoelectric Focusing of Superoxide Dismutase: Report of the Unique SODA*2 Allele in a US White Population

DeCroo, Susan; Kamboh, M. Ilyas; Leppert, M.; Ferrell, Robert E.

doi:10.1159/000153745

Cited by 4 publications

(3 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…We ob served no change in the results. Previ ously, we have documented the historical affinity of the Mormons of Utah with Scandinavian populations [20] where the frequency of the S allele is relatively low as compared to that observed in Utah in this investigation. A possible explanation for this phenomenon may be genetic drift, or founder effect in the Mormon popula tion.…”

Section: Resultsmentioning

confidence: 42%

See 1 more Smart Citation

Population Genetics of Alpha-1-Antitrypsin Polymorphism in US Whites, US Blacks and African Blacks

DeCroo

Mi²,

Ferrell³

1991

Hum Hered

View full text Add to dashboard Cite

An isoelectric focusing (IEF) procedure in an ultra-narrow pH range, 4.2–4.9, has been utilized to detect α₁-antitrypsin or α₁-protease inhibitor (PI) allele products in 2 US white and 3 US black populations as well as 1 native African black population. In addition to the 3 common alleles PI*M1, PI*M2 and PI*M3, products of the 4th allele PI*M4 have been identified in US whites at low-level frequency. The presence of the PI*S, PI*Z and PI*I alleles has also been verified in our population samples. While the PI*S allele is present at a polymorphic level in US whites, it is only present sporadically in US blacks and is completely absent in African blacks. The PI*Z allele was not detected in the black populations tested. The PI allele frequency data have been used to calculate white admixture in US blacks.

show abstract

Section: Resultsmentioning

confidence: 42%

“…US whites in the Pittsburgh area are of mixed European heritage while the US white samples from Utah are of nor thern European origin [20]. The native African black samples were kindly provided by Drs.…”

Section: Methodsmentioning

confidence: 99%

Population Genetics of Alpha-1-Antitrypsin Polymorphism in US Whites, US Blacks and African Blacks

DeCroo

Mi²,

Ferrell³

1991

Hum Hered

View full text Add to dashboard Cite

show abstract

“…Two identifiable isoenzymes SOD A, a cytoplasmic, soluble, Cu-Zn containing enzyme and SOD B, a mitochondrial, insoluble, Mn containing enzyme is encoded by genes localized on 6q25.3 and 21q22.1 chromosomes respectively as revealed by Del Villano et al (1979). DeCroo et al (1988) reported the polymorphism with respect to SOD A with three phenotypes identified as SOD A*1, SOD A*2-1, SOD A*2 encoded by two allelic forms SOD A*1 and SOD A*2 respectively and inherited as co-dominant alleles. Since no information with regards to SOD and its electromorph association, if any, is available in cardiomyopathies, such a study is imperative which may help in risk prediction and in delineation of genetic heterogeneity of the condition.…”

Section: Introductionmentioning

confidence: 99%

Superoxide Dismutase—A Genetic Marker in Cardiomyopathies

Annapurna

Ushasree

Reena

et al. 2003

International Journal of Human Genetics

View full text Add to dashboard Cite

Cardiomyopathies are a heterogeneous group of heart muscle disorders responsible for a great deal of morbidity and mortality. Dilated, hypertrophic and restrictive are the three major categories of cardiomyopathies. Since reactive oxygen species has been implicated in wide range of genetic disorders and the role of antioxidant like superoxide dismutase as a scavenger has been highlighted, the present study envisages on identifying the specific electromorphic association of superoxide dismutase with cardiomyopathies and to delineate the genetic heterogeneity based on specific alleles at risk. Phenotyping was carried out on 8% PAGE of the red cell membrane samples following Davies (1964) and Beauchamp's (1975) protocols. Blood samples from 62 dilated cardiomyopathy, 80 hypertrophic cardiomyopathy and 86 healthy individuals were collected from CARE Hospitals and voluntary blood donor camps, Hyderabad. Significant association of homozygous SOD A*1 (χ 2 = 7.58) alleles with dilated cardiomyopathy and heterozygous SOD A*2-1 (χ 2 = 5.89) alleles with hypertrophic cardiomyopathy was observed, resulting in significant deviation of allelic frequency in cardiomyopathy group compared to the control group highlighting that individuals carrying SOD A*1 (χ 2 = 7.588) and SOD A*2-1 (χ 2 = 5.89) alleles may be at a greater risk for dilated and hypertrophic cardiomyopathy respectively. Thus SOD as a genetic marker may help in risk prediction and in delineating genetic heterogeneity of the condition and the role of superoxide dismutase with specific electromorphic association in influencing endogenous nitric oxide production and energy pathways by altering the structure and function of the cell membranes is discussed.

show abstract