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PubMedDate not supplied

[The effect of the plasmon on the inheritance of resistance to Septoria nodorum Berk. in soft wheat].

The genetic control of resistance to Septoria nodorum in common wheat line Transec have been investigated. There have been concluded that high level of resistance of this line is connected with the presence in its genome of partially recessive gene which is located on wheat-rye translocation T4BS.4BL-2RL or closely linked with it. Plant plasmon can have an influence on inheritance of resistance to Septoria blotch in hybrid progeny.

Cytoplasm↗

PubMed2000

[Absence of heterosis in hybrid corn. A genetic analysis of the effect].

The genetics of the absence of heterosis in hybrid plants involving lines TS11 and P22 was studied. Segregation of hybrids (TS11 x 092) x P22, (TS11 x A619) x P22, and (TS11 x 19-3-3) x P22 for plant height was analyzed. The distribution pattern was compared with that of hybrid TS11 x P22, in which hybrid vigor was not observed or was minimal. It was shown that, in 1993 and 1996, the absence of heterosis in hybrid plants was controlled by two recessive genes. In 1998, only one gene was identified. It was suggested that lines TS11, P22, and ST156 may be used to identify genes that determine heterosis in maize.

Genes, Recessive↗

PubMed1976

[Influence of the maternal effect on allogenic inhibition of hematopoietic stem cells].

Bone marrow cells (0,5-10(6)) of female mice of CBA or C57BL strains were injected intravenously to lethally irradiated CBA, C57BL/6, (femaleCBA X maleC57BL/6)F1 and (femaleC57BL/6 X maleCBA)F1 mice. Spleen of recipients as assayed for colony count on the 9th day after bone marrow transplantation by the method of Till and McCullouch. Stem cells of CBA mice demonstrated failure of allogenic inhibition in (CBA X C57BL/6)F1 hybrid mice and formed the same number of colonies as in the spleen of syngenic recipients. The level of allogenic inhibition of CBA stem cells transplanted to (C57BL/6 X X CBA)F1 hybrid mice was 50%. Bone marrow cells of C57BL/6 mice formed colonies in spleen of (CBA X C57BL/6)F1 mice at least in 20 times less than in syngenic combination. In the transplantation of bone marrow from C57BL/6 mice to (C57BL/6 X CBA)F1 hybrid mice the allogenic inhibition was less pronounced (77-85%) as compared with the transfer of cells to (CBA X C57BL/6)F1 hybrid mice (95%). The sex of a recipient did not influence the number of formed colonies. The different level of allogenic inhibition of parental stem cells can not be explained by the effect of linkage with sex as the female of reciprocal hybrid mice have identical structure of sex chromosomes (X(CBA)XC57BL/6). The data obtained indicate that the maternal effect affects allogenic inhibition of stem cells in parent--F1 system. It is possible that the maternal influence may be determined by cytoplasmic factors of inheritance which affect the expressivity of recessive genes Hh, controlling the inheritance of specific haematopoietic cell antigens.

Animals↗

PubMed1975

Genetics of acheiropodia (the handless and footless families of Brazil). VI. Formal genetic analysis.

A genetic analysis is presented of data from 22 Brazilian sibships with cases of acheiropodia (the handless and footless families of Brazil). Segregation analysis performed using a 16K CDC 3100 computer showed a segregation frequency of .245 +/- .040, which is close to the expected value of .25. No sporadic cases were detected. The ascertainment of the probands was through multiple incomplete selection (pi = .55 +/- .07). The data are consistent with the hypothesis of an extremely rare autosomal recessive gene as the etiological factor in acheiropodia. Prevalence is estimated as 29 +/- 4, which is the same as the number of high risk cases; gene frequency equals .0009 +/- .0005, and the incidence at birth is 4 times 10(-6) by the indirect method or 7 times 10(-6) by the direct method. The frequency of heterozygotes at birth is assumed to be 0.18% (450 times the frequency of affected). Population size is approximately 10 million, and the number of founders on a unique-mutation hypothesis is estimated as about 500. All these estimates are first approximations and must be accepted with caution.

Abnormalities, Multiple↗

PubMed2002

[A study of genetic stability of male sterile mutant of maize obtained from space flighted seeds].

OBJECTIVE: To select a male sterile mutant of maize through space flight for production application. METHOD: Air dried seeds of maize (Chuan Dan No. 9) were carried to space for 15 d. After returned to the earth, a male sterile mutant was selected and a sterile line was obtained through direction breeding. RESULT: It was found that the sterile material was thoroughly abortive. The sterile was trail stable and expressed a genetic feature of single recessive gene controlled nucleus sterility. CONCLUSION: The appearance of male sterile mutant was due to gene mutation caused by space conditions.

Breeding↗

PubMed1976

[Genetic analysis of microcephaly].

A clinical genetic examination of 22 cases of hereditary microcephaly in 11 families was carried out. Parent consanguinity (first and second cousins) was ascertained in 7 families. Genetic analysis of the experimental material performed by Weinberg's method showed significantly recessive course of the genuine microcephaly inheritance. High frequency of low degree mental retardation (30%) among probable recessive genes carriers of microcephaly (of the parents and their siblings) was ascertained and that confirmed the possibility of gene heterozygous state manifestation. The gene frequency fluctuated from 0,0042 to 0,024. About 3500 people might show low forms of mental retardation in connection with probable non-penetration (about 30%) of the microcephaly genes being in heterozygols state.

Consanguinity↗

PubMed2004

The longest surviving child with Hoyeraal-Hreidarsson Syndrome.

We describe the case of a 12-year old boy with Hoyeraal-Hreidarsson Syndrome (HHS). This syndrome includes intrauterine growth retardation, microcephaly, mental retardation, cerebellar malformation, and pancytopenia. HHS is a severe multisystem disorder associated with premature mortality, due to bone marrow failure. The pathogenesis and genetic basis presently is unknown. Onset of HHS has only been described in boys and reporters speculated that HHS may be a severe form of X-linked dyskeratosis congenita (DKC). In this paper, we reported an autosomal recessive form of HHS in a family. Almost all cases have died before 4 years (except one at 7 years) our patient is alive at his 12th year at all, probably because of autosomal recessive gene transmission.

Bone Marrow↗

PubMed2005

[Hyperextension of fetlock joints in German Holstein and German Holstein-Limousin crossbred calves].

In two different dairy farms six calves exhibiting bilateral flexion of the fetlock joints in front or rear legs were born in 2000 to 2002. Four of the affected calves from the same farm were crossbred between German Holstein cows with red and white coat colour and a bull of the breed Limousin. The other two affected calves born on another farm were purebred German Holsteins with a black and white coat colour. The tests for BVD virus antigen and antibodies were negative in all affected calves. Three of the calves showed a lower selen and a higher glutamate dehydrogenase concentration in the analyses of blood metabolites. Two crossbred calves showed a degeneration of the liver with a progressive periportal fibrosis in a histological examination. In one calf an edema of astrocytes of the central nervous system was seen. The analysis of the pedigrees revealed for the four crossbred calves the Limousin bull as common ancestor and the mothers of the calves as relatives. For the affected purebred German Holstein calves also a sire was identified as a common ancestor. The pedigrees support inheritance through a monogenic autosomal recessive locus or more recessive gene loci with variable expressivity. However, the analysis could not clarify whether different gene loci are responsible for the congenital anomalies observed in the calves from the two farms and thus, the observed anomalies may be different genetic entities. Obvious environmental reasons were not found.

Animals↗

PubMed1992

Arthrogryposis, ectodermal dysplasia and other anomalies in two sisters.

Ectodermal dysplasia with arthrogryposis is an uncommon condition. We describe two daughters of a distant consanguineous couple with oligodentia, enamel abnormalities, camptodactyly, longitudinally broken nails, growth retardation, joint contractures with amyotrophy, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching, kypho-scoliosis, mild facial dysmorphia and microcephaly. The condition is probably due to an autosomal recessive gene, the parents being gypsies of the same ancestral origin.

Adult↗

PubMed1992

Tau syndrome (thrombocytopenia and absent ulnar) with mental retardation and facial dysmorphy.

A girl with pancytopenia (hemoglobin 9 g. 2,000 PMN. 75,000 platelets) was examined at 23 years of age. She had microcephaly, facial dysmorphy, skeletal deformities (kypho-scoliosis, club feet, club hands) and mental retardation. Puberty was normal, Roentgenograms showed bilateral agenesia of the distal part of the ulna with dislocation of the head of the radius. No other skeletal parts were absent. The condition is probably due to an autosomal recessive gene, the parents being second cousins.

Abnormalities, Multiple↗

PubMed2005

Genetic studies on collar rot resistance in opium poppy (Papaver somniferum L.).

The collar rot disease has been reported recently and occurs at the 10-12-leaf stage of plants of opium poppy. Infected plants topple down and dry prematurely due to fast rotting at the collar region. The inoculum for this study was multiplied on the cornmeal-sand culture. Genetic ratios were calculated by the chi-square test. Inheritance studies on this disease show a monogenic pattern of segregation with the ratio of 3 : 1 at F2, 1 : 2 : 1 at F3 and 1 : 1 at the backcross. Such genetic ratios clearly indicate that a single recessive gene (rs-1) is responsible for disease resistance in opium poppy. The inference drawn on the basis of the present study will be a great help in the future breeding programme of opium poppy for collar rot resistance.

Chromosome Segregation↗

PubMed1992

Dotted white--a plumage color mutant in Japanese quail (Coturnix coturnix japonica).

A plumage color mutant, dotted white (DTW), of Japanese quail is described in this paper. The adult DTW mutant shows white plumage with a small colored spot on the head and/or back. The pigmented spots invariably appear on the dorsal region and never on the ventral region of the body. Some birds lack colored spots and show pure white plumage. The chick of the DTW mutant shows cream yellow plumules similar to those of the White Leghorn chick. Colored spots also exist as in adults, and its coloration is diluted light brown. The feathers on colored spots of the adult show diluted pigmentation as compared with wild-type feathers. In addition, the wheat-straw colored shaft streak is extremely narrow and the transversal bars are missing. The DTW mutant is thought to be genetically different from previously reported similar mutants, brown-splashed white, panda, and recessive white. Genetic analyses revealed that the DTW mutant plumage is controlled by an autosomal recessive gene. The gene symbol dtw is provisionally proposed, since there remains a possibility that the DTW character may be allelic to some of the similar mutant characters mentioned above.

Animals↗

PubMed1991

Stumpy limb--an embryonic lethal mutation in Japanese quail (Coturnix coturnix japonica).

An embryonic lethal mutant was found in Japanese quail and named "stumpy limb (SL)". All SL embryos died at pre-hatching stages, showing brachycephaly, a thickened neck, short upper and lower beaks, and short and thick extremities, while their body length was similar to that of the normal embryos. Observations on the skeleton revealed a globular skull, unusual curvature of the Processus palatinus maxillaris of the upper beak, and shortening and thickening of the appendicular bones. Some embryos showed a bending of the humerus, femur and/or tibiotarsus. Abnormality was more conspicuous in the leg bones than in the wing bones. No conspicuous differences were observed in the vertebrae between the SL and normal embryos. A genetic analysis suggested that the mutation is controlled by an autosomal recessive gene, for which the gene symbol sl was proposed.

Animals↗

PubMed1991

Linkage analysis of quantitative traits: increased power by using selected samples.

Although a number of methods have been developed for linkage analysis of quantitative traits, power is relatively poor unless there is a single major locus of very large effect. Here it is demonstrated that the use of selected samples (i.e., ascertainment of a proband with an extreme score on the quantitative measure) can dramatically increase power, especially when proband selection is performed on the tail of a distribution with an infrequent recessive gene. Depending on gene action and allele frequency, selected samples permit detection of a major locus that accounts for as little as 10%-20% of the phenotypic variation. The judicious use of selected samples can make an appreciable difference in the feasibility of linkage studies for quantitative traits.

Gene Frequency↗

PubMed1990

[Secundum atrial septal defect in two families].

Two families having secundum atrial septal defect (ASD) were reported. In one family, a 31-year-old male and his 60-year-old mother had secundum ASD without PR prolongation. His 38-year-old brother was diagnosed as having ASD. His grandmother, who had died at the age of 51, was suspected of having congenital heart disease. From early childhood she was noticed to have heart murmur. It was suspected that this was a case of familial ASD without PR prolongation, because it was consistent with the dominant trait of the defect. In the other family, a 16-year-old female had secundum ASD and her 18-year-old brother was also suspected of having ASD. Her 25-year-old brother had been operated on for tetralogy of Fallot, and her sister had died of an unknown congenital heart disease. All of these family members had mental retardation. Her 22-year-old brother was suspected of having a congenital heart disease, because of heart murmur from his early childhood. The parents, who were blood relations (cousins), had neither heart disease nor mental retardation. The children of this family were considered to be cases of congenital heart disease with ASD, associated with mental retardation. It was also suspected that the cause of the defect was a deleterious autosomal recessive gene.

Adolescent↗

PubMed1989

Creeping: a new mutant rat with neurological disease.

We describe a new mutant rat, named creeping, that exhibits severe ataxia characterized by a creeping posture due to the inability to stand up. Affected animals can be recognized at 14.8 +/- 1.6 (mean +/- SD) days of age and die within 35 days after birth. There are no sex differences in phenotype. The breeding data suggest that the abnormal locomotion is caused by an autosomal recessive gene. We have tentatively named the gene creeping (cre). The cerebellum of affected rats is much smaller than that of normal littermates. The cerebellar lobes of the mutant are barely formed. The notable histopathological changes are disarrangement of neuronal cells in the cerebellum and cerebral cortices, although the several cell types that are present in the cortices of normal rats are also found in the cortex of the creeping rats. The same type of change is also present in the hippocampus and fascia dentata.

Animals↗

PubMed1986

[Medico-genetic study of the population of Uzbekistan. VII. Variability of hereditary pathology in 4 regions of Khorezm province].

Medical-genetic study was carried out in the population of Khorezm province (population size above 200 000 persons). Hereditary pathology was ascertained among families having two or more members affected with chronic non-infectious diseases. 155 families with 348 members affected with hereditary diseases were registered. The most frequent were autosomal recessive diseases (55 nosological forms in 104 families with 271 affected), then followed the autosomal dominant conditions (10 nosological forms in 21 families with 53 affected). The less frequent was X-linked recessive pathology (6 forms in 12 families with 20 affected). The main part of cases of autosomal recessive pathology were found in separate families and were not observed during previous medical-genetic studies in Uzbekistan. Three autosomal recessive conditions are probably new forms of hereditary pathology. The important role of assortative matings in manifestation of rare autosomal recessive genes in Uzbek population is discussed.

Consanguinity↗

PubMed1986

[Medico-genetic study of the population of Uzbekistan. VIII. Territorial distribution of hereditary diseases in the population of four regions of the Khorezm province and its genetic load].

The load of hereditary diseases was estimated on the basis of data obtained during medical-genetic study of the population of four districts of Khorezm province. The load of autosomal recessive disorders comprised 2-3 X 10(-3) affected, that of autosomal dominant disorders - 0.4-0.5 X 10(-3) and that of X-linked disorders - 0.2-0.4 X 10(-3) males. The main part of patients with autosomal recessive disorders belonged to separate families randomly spread over the populations. A trend for local accumulation of families with the same disorder was observed in small populations. It was shown that overall frequency of autosomal recessive genes per individual increased with the increase in the population size.

Gene Frequency↗