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Biomedical subjects

R E Ferrell

Publications and source records attributed to R E Ferrell.

At least 289 records · Page 16Linked to original sources
PubMed1986

Association between NIDDM, RH blood group, and haptoglobin phenotype. Results from the San Antonio Heart Study.

We examined seven red cell antigen and 10 polymorphic protein phenotypes in 1237 Mexican Americans randomly selected from three San Antonio neighborhoods. Statistically significant associations were found between non-insulin-dependent diabetes mellitus (NIDDM) and RH blood type (X2 = 32.87, df = 10, P = 0.0003) and haptoglobin phenotype (X2 = 9.15, df = 2, P = 0.010). The haptoglobin association showed a dose effect with a single dose of the haptoglobin-1 allele associated with an approximately 50% increase and a double dose of the haptoglobin-1 allele associated with an approximately 100% increase in NIDDM prevalence. Multivariate analysis indicated statistically significant associations between NIDDM and age, sex, adiposity, and neighborhood of residence. However, even after taking these potential confounding variables into account, there was still a significant, independent association between NIDDM and haptoglobin phenotype. The results suggest that the haptoglobin gene may be in linkage disequilibrium with a major susceptibility gene for NIDDM.

Adult↗
PubMed1986

Linkage of DNA markers to cystic fibrosis in 26 families.

Two DNA markers, the met oncogene and the anonymous probe, pJ3.11, previously reported to be tightly linked to cystic fibrosis (CF), were used for linkage analysis in 26 families with two or more individuals affected with CF. A new high frequency polymorphism was identified using BanI and the pmetD probe. The results of linkage analysis were as follows: between met and CF, lod score of 18.2 at theta of .009; between pJ3.11 and CF, lod score of 12.1 at theta of 0; and between met and pJ3.11, lod score of 16.7 at theta of 0. These data indicate that most or all of CF is due to an abnormality at a single locus and that the DNA markers are useful for prenatal diagnosis and heterozygote detection within affected families.

Cystic Fibrosis↗
PubMed1986

Restriction fragment length polymorphism of the human insulin gene region among type II diabetic Mexican-Americans and Tunisians.

The human insulin gene is flanked by a polymorphic locus that is located approximately 500 base pairs (bp) from the 5' end of the point where transcription begins (Bell et al. 1981; Bell et al, 1982). Its occurrence is due to an insertion-deletion region which gives rise to two major classes of alleles: those containing small insertions of 0-600 bp and those containing larger insertions of 1,600-2,200 bp (Owerbach and Nerup, 1982). Insertions of 600-1,600 bp are rare (Rotwein et al., 1983). The larger insertions have previously been reported to be associated with type 2 diabetes (Owerbach and Nerup, 1982). We have conducted studies on a Mexican-American population in Starr County, Texas (98% Mexican-American) and a Tunisian population in Tunis, Tunisia, to determine if the frequency distribution of these classes of insulin gene alleles are similar to the previously reported frequency distributions and if any of the classes of alleles are associated with type 2 diabetes in these populations. We conclude that none of the classes of insulin gene alleles are associated with type II diabetes among Mexican-Americans or Tunisians, and that the frequency distributions of the insulin gene alleles do not vary significantly between the Tunisians, Mexican-Americans, or the aggregate data resulting from combining the insulin gene frequencies of several of the populations described thus far (Bell et al., 1984).

Adult↗
PubMed1986

Genetic studies of low abundance human plasma proteins. III. Polymorphism of the C1R subcomponent of the first complement component.

Genetic polymorphism of the C1R subcomponent of human complement component C1 has been detected in normal plasma samples using the high resolving power of isoelectric focusing in 6 M urea followed by immunoblotting. There are two common alleles at the C1R structural locus that show autosomal codominant inheritance. The C1R*1 and C1R*2 allele frequencies in U.S. white and U.S. black blood donors are: .934, .066, and .899, .101, respectively.

Alleles↗
PubMed1986

Genetic studies of low abundance human plasma proteins. II. Population genetics of coagulation factor XIIIB.

Plasma samples from a large number of different ethnic groups, consisting of U.S. whites, U.S. blacks, Eskimos from Kodiak and St. Lawrence Island, Aleuts of the Pribilof Islands, and three Amerindian groups from Canada and Mexico have been analyzed by isoelectric focusing followed by immunoblotting to determine the magnitude of genetic variation at the F XIIIB structural locus. The synthesis of published data and our new data demonstrate remarkable variation in the distribution of the three common alleles at this locus and establishes F XIIIB as an extremely informative marker for population differentiation and evolutionary studies. Genetic distance analysis based on this variation separates Caucasian, black, and Mongoloid populations into three distinct clusters.

Blood Proteins↗
PubMed1986

Comparison of ultrasonographic and digital cervical evaluation.

Findings on ultrasound scanning of the cervix and lower uterine segment were compared with those on digital examination in patients in preterm labor or those in whom induction was planned. An ultrasound scoring system gave results that corresponded closely to those of the Bishop score.

Cervix Uteri↗
PubMed1986

Retinal hemorrhage and vacuum extraction delivery.

The purpose of this prospective study was to investigate whether there is an increased risk of retinal hemorrhage in those infants delivered with the assistance of the silastic vacuum extractor from mothers who were low-risk and who had normal labors. Ocular fundi of 38 term newborns (19 vacuum assisted deliveries, 19 spontaneous deliveries) were examined for retinal hemorrhage within 72 hours after delivery. The overall frequency of retinal hemorrhage was 21.1%, 31.6% with the vacuum extractor and 10.5% with a spontaneous delivery. The mode of delivery did influence the number of infants with hemorrhages in each category, however this was only statistically significant in primiparous patients. The prognostic significance of the degree of retinal hemorrhage was not assessed.

Extraction, Obstetrical↗
PubMed1985

A linkage study of multiple endocrine neoplasia type IIa.

Members of four families segregating for multiple endocrine neoplasia type IIa (Sipple's syndrome) were typed for 16 segregating blood group, erythrocyte enzyme, and plasma protein loci. Linkage analysis failed to find evidence favoring linkage between the multiple endocrine neoplasia mutation and any segregating marker. The data from this study were combined with the published data to rule out linkage for the HLA, ABO, Rh, or MNS loci at theta less than or equal to 0.25, the ADA, PGMI, AcP, GLOI, or GM loci at theta less than or equal to 0.10, and for GPT, PGD, or HpA at theta less than or equal to 0.05. The pooled data are inconclusive with respect to the previously suggested linkage to the P blood group locus.

Genetic Linkage↗
PubMed1985

Nigerian geophagical clay: a traditional antidiarrheal pharmaceutical.

The chief geophagical clay entering the West African market system comes from the village of Uzalla, Nigeria. Village inhabitants ascribe antidiarrheal properties to the clay, and they use it in traditional medicinal preparations to counteract intestinal problems. Mineralogical analyses demonstrate a striking similarity between the Uzalla village clay and the clay in the commercial pharmaceutical Kaopectate.

Africa, Western↗
PubMed1985

A genetic linkage study in 15 families of individuals with von Recklinghausen neurofibromatosis.

A linkage analysis between the gene for von Recklinghausen neurofibromatosis (NF) and 21 genetic markers was carried out using the computer program LIPED. The study group included 15 families composed of 84 individuals, 51 of whom were affected with NF; there were six three-generation families and nine two-generation families. Lod scores excluded tight linkage (Z less than -2.0) between eight genetic markers and NF and were inconclusive for nine markers. Four markers were not informative. The analysis failed to confirm either the previously suggested linkage between NF and the plasma vitamin D-binding protein Gc or the possibility of linkage of NF to the secretor locus suggested by reports of two families segregating for NF and myotonic dystrophy.

Adolescent↗
PubMed1985

A population genetic study in the Ochamchir region, Abkhazia, SSR.

The reported longevity of residents of the Soviet Socialist Republic of the Caucasus has focused considerable attention on this population. However, little is known of the genetic composition of this population. With this in mind, several village populations of the Ochamchir Region, Abkhazia, SSR, were typed for 37 discrete genetic blood groups, erythrocyte and plasma protein loci. Gene and haplotype frequencies calculated for the polymorphic markers were determined and the results used in an analysis of intervillage heterogeneity and genetic distance analysis comparing the Abkhazians to European and Asian reference populations. The Abkhazians are approximately equal distance from European and West Asian populations in a genetic sense, and this is consistent with their geographical location. In addition to the usual genetic polymorphisms, rare electrophoretic variants were encountered at the lactate dehydrogenase A and phosphohexose isomerase loci. These results suggest that the population of the Ochamchir Region is relatively homogeneous and not distinctly different from its geographical neighbors.

Blood Group Antigens↗
PubMed1985

A linkage study of protein-coding loci in Macaca mulatta and Macaca fascicularis.

Genealogical and gene marker data from the closely related species Macaca mulatta and Macaca fascicularis have been used to search for linkage between genes coding for the blood proteins albumin, carbonic anhydrase 1 and 2, diaphorase 1 and 2, group-specific component, glucose phosphate isomerase, hemoglobin alpha chains, isocitrate dehydrogenase, prealbumin, and transferrin. The results are consistent with conservation of the linkage between the loci coding for albumin and group-specific component and loci coding for the two carbonic anhydrase isozymes, as observed in other species. Among the 38 possible pairwise comparisons, no new linkage groups were identified. Tight linkage can be excluded for most pairs of loci.

Animals↗
PubMed1985

Genetics of the Lp lipoprotein in Japanese-Americans.

Segregation analysis of four Lp assays on 557 children in 227 families reveals a dominant major gene and a residual heritable component that may reflect one or more alleles of weaker effect. Close or moderate linkage to esterase-D (ESD) is excluded.

Aged↗
PubMed1985

Clinal genetic variation at enzyme loci in bald eagles (Haliaeetus leucocephalus) from the western United States.

Five polymorphic enzyme loci of about 50 sampled were discovered in blood extracts of bald eagles from Alaska, Washington, Oregon, and Arizona, representing the first biochemical genetic variation described for the species. All five loci exhibited trends of north-to-south clinal geographic variation in gene frequencies. Gene frequencies at three loci culminated in fixation in the Arizona population, which consists of 12 known breeding pairs. The Arizona birds were maximally heterozygous at the other two loci, suggesting the possibility of maintenance of some clines by natural selection. No significant discontinuities in gene frequencies were observed which correlated with earlier descriptions of two subspecies (northern and southern races) of bald eagles.

Animals↗
PubMed1985

Hypertension and sources of blood pressure variability among Mexican-Americans in Starr County, Texas.

Previous investigations have established that the Mexican-American community of south Texas has a three- to five-fold elevated risk for non-insulin dependent diabetes mellitus when compared to the US population as a whole. In addition, evidence points to similarly increased risks of the related disorders, hypertension and obesity. In this paper, age- and sex-specific rates of borderline and definite hypertension among 1931 Mexican-Americans aged 15 years and above based on a single, at-home blood pressure determination are reported. Observed rates of definite hypertension are uniformly lower than the US population while borderline hypertension is correspondingly higher for all age and sex strata yielding overall prevalences of hypertension which are not significantly different. The Starr sample, however, has one and one-third times as many individuals taking hypertensive medications so that the true rate of hypertension is likely to be higher. Examining sources of blood pressure variability using analyses of covariance indicate that age has the most significant effect. A direct measure of body size was not available, but classification based on simple silhouettes representing body form is shown to be the next most significant effect. Furthermore, the silhouettes appear to provide nearly an equivalent amount of information as does the body mass index as an empirical predictor of blood pressure variability. Diabetic classification is a significant effect for systolic blood pressure in females, but not for males or for diastolic pressure in either.

Adolescent↗
PubMed1985

Gallbladder disease epidemiology in Mexican Americans in Starr County, Texas.

The prevalence of gallbladder disease (surgery or complaints) among Mexican Americans in Starr County, Texas, is demonstrated to be some threefold higher than in Framingham, with 13% and 26% of males and females, respectively, over the age of 35 years having the disease. The population aggregation of gallbladder disease in Amerindian groups and those genetically admixed with them (as the present case) is consistent with an underlying genetic mechanism which is further substantiated here by examining relative risks in sibs, offspring, and spouses of individuals with gallbladder disease. It is shown that in females under the age of 45 years, there is evidence for a significant association between gallbladder disease and diabetes beyond that which could be explained by body mass. Significant gallbladder disease by nonlinear age interaction effects was detected for serum cholesterol. The predicted regression lines of cholesterol by age were uniformly lower for individuals with gallbladder disease than those without it except for ages 40-55 years, in which the lines were equal. When coupled with previous results on diabetes, the results presented document the extent to which diabetes and gallbladder disease dominate the health status of Mexican Americans in southern Texas and likely elsewhere.

Adolescent↗
PubMed1985

A population study of alpha-keto acid reductase.

An electrophoretic survey of 509 individuals of Japanese, Mexican American, American Negro, Eskimo, Amerindian and Anglo-American origin failed to reveal genetically determined variation at the alpha-keto acid reductase locus by starch gel electrophoresis. Additional screening of 232 individuals by thin layer isoelectric focusing in polyacrylamide gels detected a single phenotype. Interspecific variation at the alpha-keto acid reductase locus is clearly resolved using either method. These results indicate that the alpha-keto acid reductase locus is monomorphic in most human population groups despite earlier results suggesting the existence of genetic polymorphism.

Alcohol Oxidoreductases↗