[Pi W3 Constantine, new allele of Pi system].
The authors describe a new allele Pi W3 Constantine, present in the Algerian population. This allele was not responsible for pathological manifestations.
Algeria↗
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A new allele of human alpha1-antitrypsin: PiNhampton.
A new allele of alpha1AT is described. By isoelectric focusing, the microheterogeneous pattern of the variant was similar to but more cathodal than that of Pi N. This allele has therefore been tentatively designated PiNhampton(Nham). Further examination revealed that the minor bands of Nham are indistinguishable from the major bands of Z by isoelectric focusing, and a careful family study was necessary to clearly define the proband's phenotype. Pi Nham was found in association with M1, S, and Z, but to date its possession is not apparently related to clinical disorders or reduced serum levels of alpha1AT.
Adult↗
Identification of a new allele of Es-I segregating in an inbred strain of mice.
A new allele of Es-1, designated Es-1e, has been identified in the mouse. This allele was discovered segregating among the progeny of a strain DBA/2J male and is apparently the result of a spontaneous mutation within this strain. Genetic analyses have shown that this mutation is heritable and, further, that both heterozygous and homozygous progeny are viable and fertile. To date, no discernible deleterious effects have been identified as associated with this mutation.
Alleles↗
A new allele of ocular retardation: early development and morphogenetic cell death.
The inheritance and some developmental effects of a new allele of ocular retardation (orJ) are described. Affected animals or 12 days of gestation, show reduced cell death in the eye cup and thickening of the inner wall of the optic fissure. At 11 to 13 dyas of gestation orJ/orJ eyes grafted to the testis do not produce retina as their orJ+ littermates do. Adult animals have small eyes with closed lids, abnormal retinal layers, and no optic nerve.
Alleles↗
A new allele in the prealbumin system of horse serum markers.
A family study of an index case in the Arabian breed of horses demonstrated the presence of a new allele in the prealbumin (Pr) system of electrophoretically determined markers in horse serum which, when homozygous, results in the absence of any recognizable zones in the Pr region. The symbol PrO is proposed for this allele which has an estimated frequency in Arabian horses of 0.09.
Alleles↗
A 'new' allele, Kpc, at the Kell complex locus.
Four Kp(a-b-) Japanese sisters, the product of a consanguineous mating, have otherwise normal Kell antigens. Kpc, a 'new' allele of Kpa and Kpb is the most probable background.
Adult↗
IS2-43 and IS2-44: new alleles of the insertion sequence IS2 which have promoter activity.
The sequence of two new IS2 alleles with promoter activity (IS2-43 and IS2-44) is reported. The alleles are identical and are formed by a 17 bp tandem duplication in an AT-rich region of IS2. This created a new RNA polymerase binding site. A mutation was found that increased the frequency of formation of these 17 bp duplications but not of another class of duplications, the "mini-insertions". This suggested that the mechanisms of formation of the two classes of duplications are different.
Alleles↗
The Tla locus: a new allele and antigenic specificity.
Four of 23 H-2 alloantisera screened for anti-TL activity contained such activity. One of these alloantisera, D-35, defined a new TL specificity, TL.5, and a new Tla allele, Tlad. TL.5 has all the characteristics of a TL antigen and has a different strain distribution than previously known ones. This new complexity at the Tla locus and the previous finding of other serologically defined genes in the Tla region indicate that this genetic region cannot be ignored in analyzing antisera produced in strains made congenic for the major histocompatibility complex.
Alleles↗
PiT: a new allele in the alpha 1-antitrypsin system.
In a genetic investigation of the population in Hessen, Germany, we found a family with a new, rare allele in the Pi system (alpha 1-antitrypsin). According to electrophoretic analysis and isoelectric focusing patterns, it is designated PiT. A pedigree study suggests autosomal codominant inheritance. The serum concentration of six heterozygous carriers of this allele (phenotype M1T or M2T) revealed normal alpha 1-antitrypsin levels.
Adult↗
Two New Alleles, HLA-B*40:06:01:20 and HLA-DRB1*09:61N, Detected in a Spanish Bone Marrow Donor.
Genomic sequence of HLA-B*40:06:01:20 and HLA-DRB1*09:61N alleles detected in a Spanish individual.
Humans↗
A New Allele HLA-DQB1*06:02:01:42 Identified by HLA-Targeted Third-Generation Sequencing in a Chinese Individual.
HLA-DQB1*06:02:01:42 differs from HLA-DQB1*06:02:01:01 by one nucleotide change in intron 1.
Humans↗
Genetic control of mutagen sensitivity in Drosophila melanogaster: a new allele at the mei-9 locus on the X-chromosome.
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Alleles↗
A new allele at the patch locus in the mouse.
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Alleles↗
LD homozygous cells in the Warao population: a possible new allele at the LD1 locus within the main histocompatibility region in man.
A Venezuelan isolate indigenous population, the Warao, with a very large proportion of HL-A identical unrelated subjects non-reacting in MLC, has been considered a good potential source of LD homozygous cells. Cultures with lymphocytes from the members of several selected Warao families were performed with this aim and results obtained from three families are reported. In two of the families the parents share haplotype 2,5 and two of the siblings are SD double homozygous 2,5; in the third family, the common haplotype was 2,W15 and two of the siblings are also double homozygous 2,W15. Mixed lymphocyte cultures within the families have revealed that the SD homozygous children do not stimulate the cells from either parent thus being LD homozygous as well. Negative bilateral stimulation between 2,5 LD homozygous cells indicates that the LD1 allele carried by these individual's lymphocytes is the same; the negative MLC response of the 2,W15 LD homozygous cells to the 2,5 cells used as stimulators suggest either that their LD determinant is identical or the LD W15 allele is included in the LD5. As the Warao show a very large proportion of MLC identical individuals and a very high incidence of HL-A5 and W15, it is postulated that the LD allele(s) here described will be found in high frequency in this population.
Alleles↗
H-2L: demonstration of four new allelic products and independence of H-2D and H-2L molecules.
The H-2L molecules were detected for the first time in the Dd region products using antisera against the public specificity H-2.28. This specificity was analyzed because its presence in K as well as in D region products and its apparent allelism with another public specificity, H-2.1, indicated that these two specificities may have a special position may have a special position in the H-2 system. This was corroborated by subsequent identification of H-2L molecules in Dq and Dk products using anti-H-2.28 AND ANTI-H-2.1 sera, respectively, while none of the other previously known public or private specificities was detected on H-2L molecules. We tested the products of four D region alleles which had not been analyzed previously. In each of them we identified two distinct types of molecules: H-2D, which reacts with sera agains the D region private specificity, and H-2L, which does not react with these sera, but which is detectable either by anti-H-2.28 sera (H-2Lb, H-2Lf, H-2LS) or by anti-H-2.1 sera (H-2Ldx). This increases the number of identified H-2L alleles to seven (five H-2.8+, two H-2.1+). No association between H-2D and H-2D and H-2L molecules on the cell surface was detected in capping experiments.
Alleles↗
HLA-C*14:171, a New Allele With a Rare Extracellular α3 Domain.
HLA-C*14:171 differs from HLA-C*14:02:01:01 by a single nucleotide substitution in codon 211 in exon 4.
Humans↗
[Mo66, a new allele of the HLA-B locus. Preliminary note (author's transl)].
Mo66 is an allele of the HLA-B locus, which is demonstrated by HLA typing of 2 000 unrealted individuals and the members of eight informative families. Mo66 is a rare antigen, with a frequency of 0.65 % in the Languedocian population. Mo66 shows a strong association desequilibrium with HLA-A3. The identification of Mo66 is difficult, without a monospecific serum, because this antigen is united by cross-reactions above all with HLA-B13, but also with HLA-Bw40, HLA-B27, HLA-B12 and HLA-B7. The presence of an anti-Mo66 antibody in some apparently anti-HLA-B27 monospecific sera can provoke some errors in the diagnosis of ankylosing spondylitis and related diseases.
Alleles↗
Spontaneous allelic variant in deafness-blindness gene Ush1g resulting in an expanded phenotype.
Relationships between novel phenotypic behaviors and specific genetic alterations are often discovered using target-specific, directed mutagenesis or phenotypic selection following chemical mutagenesis. An alternative approach is to exploit deficiencies in DNA repair pathways that maintain genetic integrity in response to spontaneously induced damage. Mice deficient in the DNA glycosylase NEIL1 show elevated spontaneous mutations, which arise from translesion DNA synthesis past oxidatively induced base damage. Several litters of Neil1 knockout mice included animals that were distinguished by their backwards-walking behavior in open-field environments, while maintaining frantic forward movements in their home cage environment. Other phenotypic manifestations included swim test failures, head tilting and circling. Mapping of the mutation that conferred these behaviors showed the introduction of a stop codon at amino acid 4 of the Ush1g gene. Ush1gbw/bw null mice displayed auditory and vestibular defects that are commonly seen with mutations affecting inner-ear hair-cell function, including a complete lack of auditory brainstem responses and vestibular-evoked potentials. As in other Usher syndrome type I mutant mouse lines, hair cell phenotypes included disorganized and split hair bundles, as well as altered distribution of proteins for stereocilia that localize to the tips of row 1 or row 2. Disruption to the bundle and kinocilium displacement suggested that USH1G is essential for forming the hair cell's kinocilial links. Consistent with other Usher type 1 models, Ush1gbw/bw mice had no substantial retinal degeneration compared with Ush1gbw /+ controls. In contrast to previously described Ush1g alleles, this new allele provides the first knockout model for this gene.
Mice↗