SEARCH · PubMed Health
Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
Nine genetic polymorphic systems (ACP1, PGM1, ADA, AK, G-6-PD, Hp, ABO, Rh, MN), were studied in a series of 138 subjects affected by JOD. Differences between diabetic patients and controls were observed in the distribution of phenotypes of the red cell acid phosphatase (ACP1), and the ABO and MN blood groups.
Two dimensional gel electrophoresis has been used to measure the degree of genetic polymorphism among the proteins of normal human fibroblasts. Autoradiographic analysis of the gel protein profiles from radioactively labeled cells allowed comparison of as many as 300 discrete polypeptides at a time. In addition, a newly developed technique for double label autoradiography was used to increase the sensitivity of the system for detection of small differences in the protein profiles of different cell lines. Only about 1.2% of the proteins of different cell lines were found to differ in their electrophoretic mobility. This corresponds to an average heterozygosity of approximately 0.6%. Previous studies of genetic polymorphism using different methods of one-dimensional electrophoretic analysis have estimated the average heterozygosity of the human population at about 6.7%. Detailed mathematical analysis shows the variation of the observed from the expected number of differences to be statistically highly significant. While the reasons for this difference are not clear, the observation of low levels of genetic polymorphism on two-dimensional gels should enhance the usefulness of this technique for detection of altered proteins in inherited disease.
The authors studied the phenotypic distribution of alpha-L-fucosidase in a random sample of the population of the area of Rennes (France). The frequencies of Fu1 (0.64) and Fu2 (0.36) genes are significantly different from the frequencies observed in New York whites and blacks.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Electrophoresis of human tears on slab polyacrylamide gels showed five phenotypes among anodal tear proteins. These phenotypes are the expression of autosomal codominant alleles. Gene frequencies are as follows: for Caucasians, At1 = 0.99, At3 = 0.01; for Negroes, At1 = 0.97, At2 = 0.03; for Chinese, At1 = 0.98, and At4 and At5 are both approximately 0.008.
Explore the source record for details and available documents.
In 2 independent samples of low-birth-weight infants the proportion of females and homozygotes for a series of polymorphic systems was higher in light-for-dates than in preterm babies. The observation seems to give support to the hypothesis that homozygosity for 'normal' polymorphisms may decrease in general intrauterine growth rate. Since it is known that survival rate is strongly related to birth weight, a correlation between growth retardation and homozygosity may have a major role in the maintenance of such polimorphisms.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
The gene frequencies in samples of two language groups from Afghanistan, comprising 104 Pushtu and 179 Dari subjects living in Kabul, have been examined for 24 loci. Some systems suggest greater affinity to the west (e.g. the MS gene combination, the esterase D2 allele), some to the east (e.g. the K blood group), while others are intermediate between those of India and the Orient on the one hand, and Europe and the West on the other. In general, the gene frequency levels are much as would be expected from the geographical position of the country. The two language samples are essentially similar in gene frequency, so any earlier gene frequency differences that may have existed between the language groups are no longer distinguishable. However, the amount of heterozygosity shows that the Kabul population is not yet homogeneous and that the two endogamous linguistic groups remain disparate to some extent.
In a sample of 150 Sukuma from north central Tanzania, immunoglobulin G, M, A, and E levels were studied in relation to the phenotypes in 22 polymorphic systems. No strong associations were detected, though there is a suggestion of an association between IgG and haptoglobin type, with elevation of mean levels in heterozygotes.
Amino acid sequence analysis of a b4 light chain from a rabbit homogeneous antistreptococcal antibody revealed the presence of two amino acid substitutions in the constant region not previously reported for these positions. These interchanges, consisting of serine for alanine at position 121 and leucine for glutamine at position 124, were also present in about 30% of the pooled b4 light chains isolated from pooled IgG from the rabbit (4539) that produced the homogeneous antibody. In addition, these interchanges (b4var) were found, always at the same levels, in varying percentages in nonimmune or early immune bleedings from related rabbits in this pedigreed family and could be traced for five generations. The inheritance pattern of b4var was consistent with autosomal codominant inheritance.
Light chains isolated from normal immunoglobulin of unimmunized mice were analyzed by gel isoelectric focusing. Examination of the focusing patterns of light chains from nine inbred mouse strains showed that six of the strains (SWR/J, C3H/HeJ, DBA/1J, A/J, CBA/J, and C57BL/6J) possessed a virtually identical spectrum of focusing bands, while the remaining three strains (RF/J, AKR/J, and C58/J) showed clear differences involving several bands. Analysis of the light chains of individual SWR/J, C58/J, and F1 hybrid mice indicated that the differences in focusing pattern were inherited in a simple codominant fashion. A new procedure was developed for the rapid analysis of light chains from small quantities of serum.
Six plasma eserine resistant esterase phenotypes were observed in a population of 1438 dogs consisting of 38 breeds. Analysis of parentage records of the dogs examined revealed that the phenotypic variation of eserine resistant esterases was controlled by 3 codominant alleles ESA, ESB and ESC at one autosomal locus. The gene frequency of ESB was high in most of the breeds examined. Allele ESC was only seen in 5 Japanese native breeds, Akita, Shikoku, Hokkaido, Shinshu-Shiba and Mino-Shiba, and in a Spitz dog. Allele ESA has a low frequency in Japanese breeds but a higher frequency in some of the European breeds tested.
A modified electrophoretic system for the determination of C4 polymorphism has been found with which the new allotype F1 could be detected. The system has been applied to the population distribution of C4 in 266 unrelated Germans, further to association and linkage studies. Gene frequency was 0.3985 for C4F, 0.5526 for C4S and 0.0489 for the rare C4 genes. In the population sample, significant association between Bf and C4 but no indication for close association between C4 and GLO I has been found. In the families HLA, Bf and C4 segregated together.
1. A method has been devised for the detection after starch-gel electrophoresis of phosphoglycolate phosphatase (PGP) isozymes. 2. PGP isozymes can be detected in all human tissues including red cells, lymphocytes and cultured fibroblasts. The highest activities occur in skeletal muscle and cardiac muscle. 3. PGP is a relatively specific phosphatase which shows enhanced activity in the presence of mercaptoethanol at a neutral pH.4. Six different commonly occurring electrophoretic types of PGP have been identified. Family studies indicate that they are determined by three alleles at an autosomal locus (PGP). 5. The gene frequencies of PGP1, PGP2 and PGP3 in a random sample of Europeans were 0.826, 0.129 and 0.045 respectively. 6. The three-banded isozyme patterns seen in heterozygotes suggest that PGP is a dimeric enzyme.
PGM3 activity was investigated by means of horizontal starch gel electrophoresis. In the pig of the German Landrace three different phenotypes have been recognized: F, S and FS. Family studies suggest the occurrence of at least two alleles--PGM3F and the PGM3S at an autosomal locus.