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At least 37 records · Page 2Linked to original sources
PubMed1976

Genetic polymorphism of human anodal tear protein.

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.

Alleles↗
PubMed1992

Genetic polymorphism of human factor H (HF, beta 1H globulin) in Chinese Han population in northeast China.

The distribution of human factor H of serum phenotypes were studied using ultrathin polyacrylamide gel isoelectric focusing (PAGIEF) and subsequent immunoblotting techniques in 203 Chinese of Han population in Liaoning Province of northeast China. The gene frequencies of HF*A and HF*B were 0.4828 and 0.5172, respectively. All the observed numbers of the phenotypes were in agreement with the expected numbers under the Hardy-Weinberg equilibrium. The gene frequencies among Chinese, Japanese, and Caucasian populations were compared.

China↗
PubMed1979

Genetic polymorphisms and intrauterine development. Evidence of decreased heterozygosity in light-for-dates human newborn babies.

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.

ABO Blood-Group System↗
PubMed1992

Phenotypic and genetic polymorphisms among human herpesvirus-6 isolates from North American infants.

Fifteen human herpesvirus-6 (HHV-6) isolates from North American infants with primary infection manifest as febrile or roseola (exanthem subitum) like illnesses were characterized phenotypically on the basis of their in vitro growth in continuous T-cell lines and primary human mononuclear cells and by their reactivity with monoclonal antibodies. All isolates replicated efficiently in primary human cord blood mononuclear cells, but five distinct patterns of viral replication in human cells lines were observed. Two of the HHV-6 isolates from infants were found to replicate in HSB-2 cells, a property associated with so-called group A viruses, which had previously been isolated only from adults. These same isolates also reacted with a panel of A-specific monoclonal antibodies. Genomic characterization of viral isolates using well-characterized restriction site polymorphisms indicated that these two isolates contained a mixture of both A- and B-type genomes, in different proportions. These data suggest that not all HHV-6 isolates can be categorized into one of two broad groups and that such segregation of HHV-6 isolates may in fact be misleading.

Cell Line↗
PubMed1992

Presence and genetic polymorphism of an epithelial mucin in milk of the goat (Capra hircus).

1. Analysis of individual samples of goat's milk by SDS-PAGE confirmed that they contain a polymorphic, high molecular weight (M(r) greater than 205 kDa) glycoprotein. 2. On SDS-gels, the polymorphism takes the form of two bands of variable mobility which usually stain with equal intensity. This polymorphism resembles that detected in milk mucins of other species and is best explained by an expression of codominant genes containing variable numbers of a tandemly repeated 60-base segment. 3. Analysis of milk fractions provided evidence that the goat mucin is exclusively a membrane protein, and that it can be purified from other fat globule proteins by gel filtration and peanut lectin affinity chromatography. 4. Among proteins in the goat milk fat globule, the mucin appears to be a strong immunogen but the resulting antibodies applied to Western blots only stained the cow's milk mucin mildly and the guinea pig and human milk mucins not at all.

Animals↗
PubMed1976

Genetic polymorphism of IgD-like cell surface immunoglobulin in the mouse.

Lymphocyte surface antigens from spleen cells of several mouse strains were studied by cell surface radioiodination, extraction with detergent incubation with various antisera, and separation of complexes using protein A-containing staphylococci as a solid phase adsorbent. Complexes were then dissociated and analyzed by polyacrylamide gel electrophoresis in the presence of sodium diodecyl sulfate. Using this technique and an alloantiserum prepared in C57BL mice against CBA spleen cells, four distinct specific peaks of radioactivity were found with CBA spleen cells. These corresponded to H-2 and Ia antigens, immunoglobulin light chain, and a heavy chain previously proposed to be the murine homolog of the human delta chain. With the same serum, B10.BR spleen cells revealed only H-2 and Ia antigens, whereas C57BL.Ige (allotype congenic) spleen cells showed only the light chain and "delta" chain peaks. Depletion of immunoglobulin from the surface-iodinated preparations resulted in removal of the light chain and "delta" chain peaks. The tissue distribution and membrane expression of this "delta" chain antigen was then studied by indirect immunofluorescence with various C57BL derived alloantisera and lymphoid cells from C57.Ige allotype congenic mice. Significant numbers of positive cells were found in spleen, lymph nodes, and Peyer's patches, whereas few if any positive were found in bone marrow or thymus. No reaction was found between this molecule and alloantisera to any of the previously described immunoglobulin allotypes. It is proposed that these alloantisera to spleen cells recognise one allelic form of the murine "delta" chain coded for by a gene locus closely linked to the known structural genes for mouse immunoglobulin heavy chains. The designation Ig-5 is proposed for this new immunoglobulin heavy chain locus.

Animals↗
PubMed1977

Genetic polymorphisms in Afghanistan.

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.

Afghanistan↗
PubMedDate not supplied

Immunoglobulin levels and genetic polymorphisms in the Sukuma of Tanzania.

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.

Blood Group Antigens↗
PubMedDate not supplied

Phosphoglucomutase genetic polymorphism and human fertility.

We studied the phosphoglucomutase phenotype in relation to fertility parameters in a consecutive series of 204 women who had delivered a normal live-born child in Rome. A highly significant association was found between age of the women and phosphoglucomutase phenotype, suggesting a reduced rate of reproduction among women of phosphoglucomutase Type 1. Previous spontaneous abortion appears related to both age and phosphoglucomutase enzymatic type. An increased incidence of abortion in women of older ages was observed only in phosphoglucomutase Type 1. Gestational duration and fetal intrauterine growth rate are also significantly associated with maternal phosphoglucomutase phenotype. The pattern is complex, but also in this instance the influence of maternal age was evident. Considered altogether, the data suggest that phosphoglucomutase may have an important role in zygote development and survival through the whole span of intrauterine life.

Abortion, Spontaneous↗
PubMed1976

A genetic polymorphism in the constant region of rabbit b4 kappa chains.

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.

Amino Acid Sequence↗
PubMed1976

Genetic polymorphism of mouse immunoglobulin light chains revealed by isoelectric focusing.

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.

Animals↗
PubMed1975

Genetic polymorphism and evolution in parthenogenetic animals. II. Diploid and polyploid Solenobia triquetrella (Lepidoptera: Psychidae).

Genic polymorphism at sixteen enzyme loci of four different chromosomal races of Solenobia triquetrella (bisexual, two diploid parthenogenetic races and tetraploid parthenogentiic) has been studied by starch gel electrophoresis. Isolated small diploid bisexual populations have rather uniform allele frequencies at all loci which we have studied. Diploid and tetraploid parthenogenetic individuals of this species are in general as heterozygous as bisexual ones. All parthenogenetic local populations are different from each other in the Alps. These parthenogenetic genotypes cannot be derived from a common ancestor through single mutations but rather bear evidence for a polyphyletic origin of parthenogenesis in Solenobia triquetrella. In the marginal distribution areas of the species in northern Europe single genotypes are spread over far larger areas than in the mountain regions of central Europe. This may be due to the old origin of parthenogenesis and polyploidy in northern Europe. No new parthenogenetic and polyploid strains have lately arisen in the regions outside of the Alps.

Alcohol Oxidoreductases↗