Biomedical subjects
Publications and source records attributed to R E Ferrell.
Electrophoretic variants at 22 genetic loci in the Aymara, mestizo, and Spanish populations of northern Chile are presented, and their possible role in adaptation to hypoxic environments are discussed. Some apparently unique variants were found.
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The amino acid sequence of the high activity form of erythrocyte carbonic anhydrase, carbonic anhydrase II, purified from rabbit erythrocytes has been determined. This sequence was determined primarily from the cyanogen bromide and tryptic peptides through use of automated Edman degradation procedures. The ordering of the peptides from rabbit carbonic anhydrase II was based on the high degree of homology between the rabbit enzyme and the homologous enzymes derived from sheep, bovine, and human erythrocytes. The function of certain residues is discussed in the context of these three known sequences and the previously reported three-dimensional structure of human carbonic anhydrase II. Possible microheterogeneity of rabbit carbonic anhydrase II is also discussed.
Panama's black citizens are culturally and historically divisible into two groups, the Spanish-speaking coloniales and the English-speaking anglos or afro-antillanos. Until recently these groups have been geographically as well as culturally isolated one from the other, although both are predominantly of West and Southwest African origin. Assessment of the genetic diversity within-villages and within language groups reveals as much, possibly somewhat more, diversity in 15 inherited biochemical markers within villages and language groups as that which obtains between villages and language groups. A number of rare variants at the 6-phosphogluconate dehydrogenase, lactate dehydrogenase, and esterase D loci were encountered and are described.
This paper presents the results of an electrophoretic survey of approximately 4000 individuals from Hiroshima and Nagasaki for four erythrocyte enzymes: isocitrate dehydrogenase, peptidase A, peptidase B, and phosphohexose isomerase. Also reported are the results for erythrocyte acid phosphatase for a subset of these individuals. The frequencies for the ACPA1 and ACPB1 alleles of the ACP1 locus are in agreement with previously reported results from Japanese populations. Rare variants of ICDS, PEPA, PEPB and PHI occur with frequencies varying from 0.25 to 7.2 per 1000 determinations. The relatively high frequency of the PHI 4HIR1 variant and some unusual features involving the effect of reducing agent on the electrophoretic pattern behaviour of some of the rare PHI variants detected during this study are discussed.
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Phenotype and gene frequencies are presented for eight polymorphic systems among the Nubians of South Egypt, namely, acid phosphatase, glucose-6-phosphate dehydrogenase, adenylate kinase, 6-phosphogluconate dehydrogenase, esterase D, phosphoglucomutase I, peptidase A, and haptoglobin. Eleven systems, namely, albumin, ceruloplasmin, hemoglobin, lactate dehydrogenase, isocitrate dehydrogenase, phosphohexose isomerase, malate dehydrogenase, peptidase B and C, phosphoglucomutase II, and transferrin were found to be monomorphic. A single electrophoretic variant of phosphohexose isomerase were observed.
A total of 315 individuals, mainly of Aymara origin, from western Bolivia were examined for genetic variation at eight red cell antigen and 19 serum protein and red cell enzyme loci. The gene frequencies for polymorphic loci and the discovery of several rare variants are discussed in terms of previous work among the Aymara and the closely related Quechua. The effect of inclusion of related individuals in the sample on gene frequency, variance of gene frequency and genetic distance, is discussed.
Five enzyme systems, PGM1, PGM2, ADA, 6-PGD and AK, were examined by electrophoresis in over 4000 samples from Hiroshima and Nagasaki for the frequencies of common and rare variants. In the PGM1 system, the PGM2(1) allele and PGM7(1) allele were found in polymorphic proportions, In addition, five kinds of slow variants and three types of fast variants of PGM1 were detected. The PGM3(1)NGS1 allele was found in five individuals from Nagasaki, but was not observed in samples from Hiroshima. There were no variants of PGM2. Three kinds of fast variants of 6-PGD were detected. No variation in AK was observed. There were no rare variants of ADA. The 6-PGDc allele had a frequency of 0.084 in Hiroshima and 0.093 in Nagasaki, and the ADA2 allele frequencies of 0.025 in Hiroshima and 0.032 in Nagasaki.
This paper presents the results of a survey of Japanese for electrophoretic variants of CA I, CA II, LDH, MDH, TPI, NP, HB A and A2, the number of determinations per system ranging from 738 to 4029. Four similar variants of CA I (designed CA IHIR1), one of LDH (designated LDHNGS1), one of MDH (designated MDHS 7HIR1), two of HB A (one a reascertainment of HB Hijiyama, the other not characterized), and one characterized by the absence of HB A2 (delta-thalassaemia) were observed and are described. The CA IHIR1, LDHNAG1 and MDHS 2HIR1 variants have not been previously observed in Japan. No electrophoretic variants were found in the TPI and NP systems.
This paper presents the results of an electrophoretic survey of approximately 4000 individuals from the cities of Hiroshima and Nagasaki, Japan, for four serum proteins: albumin, ceruloplasmin, haptoglobin and transferrin. The haptoglobin gene frequencies obtained for the HP1-HP2 polymorphism are in agreement with earlier reports. Rare electrophoretic variants of albumin, ceruloplasmin and haptoglobin occur with frequencies of 2-48, 0-50 and 0-58 per 1000 determinations, respectively. The noteworthy finding of 8 distinct transferrin variants in these populations, with a combined frequency of 20-90 per 1000 determinations, is also presented. Four of these variants (Dchi, B1, B3, and DHIR2 which corresponds electrophoretically to D4) have been reported in other populations in Japan, but the other five have not previously been differentiated.
Blood specimens from a sample of 373 Marshall Islanders were studied with reference to variants of 23 serum proteins and erythrocyte enzymes. Six of the traits studied exhibited genetic polymorphisms (adenosine deaminase, phosphoglucomutase1, acid phosphatase, 6-phosphogluconate dehydrogenase, haptoglobin, and group specific component). There were in addition four "rare" variants (albumin, transferrin, lactate dehydrogenase, and galactose-1-phosphate uridylyltransferase) involving nine persons, among 8,503 determinations. The frequency of rare variants in Micronesians was compared with the frequencies in West European Caucasians and Amerindians. There are many difficulties in such comparisons, and although the observed values for the three ethnic groups differ by a factor of three (the Micronesians exhibiting the lowest frequency), it is felt that no firm conclusions concerning differences between ethnic groups can be drawn at this time.
A carboxypeptidase B-like enzyme which catalyses the hydrolysis of synthetic esters of lysine and arginine has been isolated from the starfish Dermasterias imbricata. This carboxypeptidase B-like enzyme has a molecular weight of approximately 34 000 and shares this and other properties with bovine pancreatic carboxypeptidase B. The existence of zymogen for this activity in the pyloric caeca of the starfish is demonstrated. This zymogen has a molecular weight near 40 000 and appears to be analogous to other monomeric procarboxypeptidases B. The zymogen possesses an intrinsic low-level activity toward synthetic substrates of carboxypeptidase B and is activated by trypsin.
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