Structural studies on Dendrostomum pyroides hemerythrin.
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Acetates↗
Biomedical subjects
R E Ferrell
Publications and source records attributed to R E Ferrell.
Properties of Dendrostomum pyroides hemerythrin.
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Amino Acids↗
Variable number of tandem repeat (VNTR) polymorphism at locus D17S5 (YNZ22) in four ethnically defined human populations.
We have analyzed the hypervariable locus D17S5 in four well-defined human populations (Kachari of Northeast India; Dogrib Indian of Canada; New Guinea Highlander of Papua New Guinea; and a relatively homogeneous Caucasian population of North German extraction) using both Southern blot analysis and the polymerase chain reaction (PCR) technique to: (1) compare the efficiency and limitation of Southern blotting versus PCR-based techniques in genotyping variable number of tandem repeat loci, and (2) provide allele frequency data at this locus in these four anthropologically defined populations. Preferential PCR amplification of smaller alleles associated with D17S5 was corrected by lowering the DNA template concentration to 200 ng, and by reducing the extension time to 2 min. A perfect correspondence was observed between the results from Southern blot and PCR analysis in all but one sample. A very large allele, of approximately 24 to 25 repeat units, detected by Southern blotting, could not be amplified by PCR, resulting in an incorrect genotyping rate of less than 0.5%. Considering the grave consequences of mistyping in forensic and paternity testing, it is suggested that heterozygous controls consisting of large and small alleles should be employed in each PCR experiment, and PCR-generated homozygotes should be confirmed by Southern blotting. Significant variation in the number and frequency of alleles at this locus was observed in the four examined populations. A total of 15 different alleles were detected. The average heterozygosity varied from 54% in the Dogrib to 89% in the Kachari. No heterozygote deficiency was observed at this locus in any of the examined populations.
Asian People↗
Two new alleles in the tetranucleotide repeat polymorphism at the lipoprotein lipase (LPL) locus.
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Alleles↗
Correlation of paternity index with probability of exclusion and efficiency criteria of genetic markers for paternity testing.
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Genetic Markers↗
Genetic components of variations of red cell glycolytic intermediates at two altitudes among the South American Aymara.
Red cell haemoglobin (Hb), haematocrit (Ht), 2,3-diphosphoglycerate (DPG), and adenosine triphosphate (ATP) levels were measured in 876 individuals from six villages at two altitude levels (altiplano and coast) of the Departmento de Arica of Northern Chile. Of these, data on 761 individuals are subjected to analysis to search for the evidence of genetic adaptation to a hypoxic environment at a high altitude. Total phenotypic variance for each of the variables is higher at the altiplano as compared to their counterparts at the coastal level. Data on 1127 pairs of relatives of six degrees of relationships are used to determine the genetic component of variation in each of these four traits. To a certain extent the larger familial correlations as well as higher variances at altiplano are explained by the apparent assortative mating (which may again be due to their restricted population size) at the higher elevation. Yet, at least in three variables (Hb, Ht, and DPG) no reduction in the additive genetic component of variation is noticed at the higher altitude. ATP seems to have the highest degree of genetic component of variance, particularly at the coastal level. Some implications of these results are discussed in the light of their roles in the glycolytic pathway.
2,3-Diphosphoglycerate↗
Immunoglobulin (Gm and Km) allotypes in the Aymara of Chile and Bolivia.
Immunoglobulin (Gm and Km) allotype and haplotype frequencies are presented for 1707 individuals from Northern Chile and Western Bolivia, subdividing them by ethnicity and altitude of residence. The haplotype distribution of Gm as well as Km loci in these populations suggest that in almost all of the ethnicity x altitude subdivisions of this population considerable admixture of Amerindian and Caucasian genes have occurred. The haplotype frequency heterogeneity and the analysis of departure from Hardy-Weinberg expectations demonstrate that while some local variation in haplotype frequencies at the Gm and Km loci exists in this region, there is no clear evidence suggesting that the pattern of variation is due to an adaptation to the hypoxia of altitude. We conclude that such differences in haplotype frequencies are probably due to random genetic drift and differential admixture of Amerindian and Caucasian genes that have occurred in the past.
Bolivia↗
Gene diversity of chimpanzee ABO blood group genes elucidated from intron 6 sequences.
The human and nonhuman primate ABO blood group gene shows relatively large numbers of nucleotide differences around the exon 7 region. In this study we determined intron 6 sequences for 9 alleles of common chimpanzee and for 3 alleles of bonobo to estimate nucleotide diversities among them. Sequence length polymorphisms are observed in this region as a repeat appears one to five times. From a phylogenetic network of intron 6 sequences of ABO blood group genes for humans, common chimpanzee, and bonobo, parallel substitutions and/or some kinds of convergent events are predicted in the chimpanzee lineage. We also estimated nucleotide diversities for common chimpanzee and bonobo ABO blood group genes; these values were 0.219% and 0.208%, respectively.
ABO Blood-Group System↗
Mitochondrial 16S rRNA sequence diversity of hominoids.
We determined nucleotide sequences of the 16S rRNA gene of mitochondrial DNA (mtDNA) (about 1.6 kb) for 35 chimpanzee, 13 bonobo, 10 gorilla, 16 orangutan, and 23 gibbon individuals. We compared those data with published sequences and estimated nucleotide diversity for each species. All the ape species showed higher diversity than human. We also constructed phylogenetic trees and networks. The two orangutan subspecies were clearly separated from each other, and Sumatran orangutans showed much higher nucleotide diversity than Bornean orangutans. Some gibbon species did not form monophyletic clusters, and variation within species was not much different from that among species in the subgenus Hylobates.
Animals↗
Genetic studies of low-abundance human plasma proteins. VII. Heterogeneity of the C1S subcomponent of the first complement component.
Charge-based structural variation has been observed in the C1s subcomponent of the first complement component C1 after isoelectric focusing and immunoblotting. One common and two uncommon autosomal co-dominantly expressed alleles, designated C1S*1, C1S*2 and C1S*3, have been recognized at the C1S structural locus. The frequency of these alleles was 0.979, 0.016 and 0.005, respectively, in a U.S. white population. No variation at the C1S locus was observed in a U.S. black sample (n = 95).
Alleles↗
Phenotypic effects of apolipoprotein structural variation on lipid profiles. III. Contribution of apolipoprotein E phenotype to prediction of total cholesterol, apolipoprotein B, and low density lipoprotein cholesterol in the healthy women study.
The apolipoprotein (apo) E structural locus has been shown to influence concentrations of total cholesterol, apo B, and low density lipoprotein (LDL) cholesterol in population studies. Apo E has six phenotypes resulting from three common alleles at this locus. In the present study, we have typed 473 healthy white women for apo E. At baseline in 1984, all women were premenopausal. To date, 109 of these women have become postmenopausal and are not on hormone therapy. Statistical analyses were done on both pre- and postmenopausal groups to assess the influence of menopausal status in combination with the apo E locus on lipid profile. Nine lipoprotein lipids and apolipoproteins were categorized by three apo E phenotypes: apo E3-2, apo E3-3, and apo E4-3. These were compared in analysis of variance. At baseline, the apo E3-2 phenotype showed the lowest average concentrations of total cholesterol (170 mg/dl), apo B (80 mg/dl), and LDL cholesterol (91 mg/dl), while the apo E4-3 phenotype demonstrated the highest average concentrations of total cholesterol (192 mg/dl), apo B (104 mg/dl), and LDL cholesterol (116 mg/dl) (p less than or equal to 0.0004). Apo E3-3 homozygotes were intermediate on all three quantitative variables. The postmenopausal subset showed the same trends by phenotype, with overall increases in total cholesterol, apo B, LDL cholesterol, and triglycerides, regardless of phenotype. Women who remained premenopausal generally showed smaller increases in these same measures. Our results suggest that, on average, the lower lipoprotein values for the apo E3-2 phenotype are maintained through early menopause despite a worsening of lipid profiles for all women as they age.(ABSTRACT TRUNCATED AT 250 WORDS)
Alleles↗
Effects of polymorphisms in apolipoproteins E, A-IV, and H on quantitative traits related to risk for cardiovascular disease.
The impact of the common alleles at structural loci coding for apolipoprotein (apos) A-IV, E, and H on 12 quantitative risk factors for cardiovascular disease (apos A-I, A-II, B, C-II, C-III, and E; total cholesterol; triglycerides; high density lipoprotein cholesterol; systolic blood pressure; diastolic blood pressure; and red blood cell sodium-lithium countertransport) was estimated in 453 unrelated individuals (227 men and 226 women) aged 26-63 years from the Rochester Family Heart Study, who were not using medications affecting lipid levels or blood pressure. Each risk factor was adjusted for concomitants (assay date, age, age, squared, height, weight and smoking status) before the genotypic effects on mean levels and variances were estimated. Allele frequencies were the same in men and women and were similar to those observed in other studies of US Caucasians. There were very different gender-specific estimates of the relative contribution of concomitants, measured genetic effects, and residual unexplained effects to the interindividual variation of particular traits. Allelic variation in apo E had effects on the greatest number of traits, namely apo E, apo B, apo C-II, and total cholesterol. An effect on triglycerides was dependent on the inclusion of hypertriglyceridemic subjects. Allelic effects of apo A-IV and apo H were much less than those estimated for the apo E polymorphism. A possible role for apo H in high density lipoprotein metabolism is suggested. This study indicates that variation in many genes may influence variation in a particular trait and that a particular gene may have pleiotropic effects on several traits.
Adult↗
Autosomal dominant ophthalmologic disorders and linkage.
A consideration of the currently established autosomal dominant linkage relationships to ophthalmologic disorders was utilized to review the principles of linkage. If cross-over does not occur, as few as 6 informative matings can be utilized to identify probable linkage, and as few as 11 informative matings can be utilized to establish linkage. The potential implications of linkage in diagnosis, prevention, and treatment of heritable disorders was discussed.
Acid Phosphatase↗
Genetic studies of human apolipoproteins. VI. Common polymorphism of apolipoprotein E in blacks.
Human apolipoprotein E exhibits genetically determined polymorphism with three common alleles, and plays a pivotal role in lipoprotein metabolism. Except in Caucasians, variation at the apolipoprotein E locus has been studied poorly in world populations. Using isoelectric focusing and immunoblotting, we have determined apolipoprotein E phenotypes and gene frequencies in a large number of individuals of black ancestry from the U.S. and Nigeria. The common three allele polymorphism was observed in both populations, with a striking high frequency of the APO E*4 allele as compared to the reported values in other population groups. The frequencies of the three alleles, APO E*2, APO E*3, and APO E*4, respectively, are: 0.034, 0.706, 0.260 in U.S. Blacks and 0.028, 0.662, 0.310 in Nigerian Blacks.
Apolipoproteins E↗
Alpha-1-antitrypsin (PI) and vitamin-D binding globulin (GC) phenotypes in rheumatoid arthritis: absence of an association.
The distribution of alpha-1-antitrypsin (PI) and vitamin D-binding globulin (GC) phenotypes and gene frequencies has been examined in a homogenous group of clinically well-defined patients (N = 81) with rheumatoid arthritis. The distribution pattern of the two markers was then compared with two control groups consisting of 40 individuals with osteoarthritis and 192 randomly selected normal individuals, drawn from the same geographical area as the rheumatoid arthritis patients. No association was observed between alpha-1-antitrypsin subtypes or deficient alleles and any of clinical variables observed in rheumatoid arthritis cases. Although a slightly high frequency of the GC*2 allele and a low frequency of the GC*1S allele were observed in rheumatoid arthritis and osteoarthritis compared to controls, the differences were not statistically significant. However, within the patients two clinical variables were found to be significantly associated with a particular GC phenotype. Periarticular bony erosions and antinuclear antibody were positively and negatively associated with GC 1S-2 phenotype, respectively.
Alleles↗
Craniosynostosis with autosomal dominant transmission in New Zealand white rabbits.
Although great strides have been made recently in determining the etiology of a number of human craniosynostotic syndromes, pathogenic mechanisms for these conditions are still unclear, in part because of the lack of a genetic animal model with primary craniosynostosis. Recently, we developed an inbred colony of rabbits with congenital coronal suture synostosis. The present study describes long term breeding demographics, karyotypes, and pedigree analysis from this colony in an effort to characterize the genotype and mode of inheritance of craniosynostosis for future etiopathogenic studies. Seventy-six consecutive back- and intercrosses resulted in 46 fetal and term litters and produced 135 normal offspring and 163 affected offspring with either partial or complete coronal suture synostosis. Conception rate, litter size, and gestation length were normal, and karyotype analysis revealed no gross chromosomal abnormalities. Pedigree analysis of the segregation rates observed for each rabbit litter suggests that the craniosynostosis seen in this pedigree is inherited in an autosomal dominant fashion with reduced penetrance and variable expression. Results revealed that the mode of inheritance and phenotypic variability noted in this colony closely parallel the human craniosynostotic condition and several possible candidate gene families are discussed. The utility of developing such a congenital animal model is evident and may lead to a better understanding of gene expression, normal suture morphogenesis, and the pathogenesis of craniosynostosis.
Animals↗