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At least 127 records · Page 7Linked to original sources
PubMed1996

A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene.

Hereditary hearing loss is divided into two groups, syndromic and non-syndromic, the latter being more common and highly heterogeneous. Linkage analyses were performed on a Japanese family showing a dominant form of non-syndromic progressive sensorineural hearing loss. This gene (DFNA11) was localized within the region of chromosome 11q which contains the second gene for a recessive form of non-syndromic sensorineural hearing loss (DFNB2). Since it has been reported that another gene for dominant non-syndromic hearing loss (DFNA3) has been mapped to the same region as the first gene for recessive hearing loss (DFNB1), it is possible that different mutations in the DFNB2 gene may result in either dominant or recessive hearing loss.

Adolescent↗
PubMed2002

[Genetics study on photo- and thermo-sensitive genic male sterility of indica rice (O. satival L.)].

The sterility segregation and its genetic patterns of indica P(T)GMS rice were analyzed mainly based on the investigation of bagged seed-set of individuals in reciprocal F2 population from the crosses between P(T)GMS lines of different origin and typical indica conventional varieties of different ecotype under long day-length and high temperature condition by using the software of the maximum likelihood method. The results showed that the sterility of Annong S-1, Hengnong S-1, and W6154S, of which the sterility alteration was mainly induced by temperature fluctuation, was controlled by one major recessive gene. But the sterility of W7415S was controlled by more than two major recessive genes. Apart from the major recessive gene, there was a group of polygenes in controlling of the sterility segregation in F2 population. Moreover, the polygenic variance was different from line to line. It implied that the polygenes of W6154S or W7415S was far more complicated than that of Annong S-1 and Hengnong S-1 according to the maximum likelihood method. All the conventional indica varieties of different ecotypes possessed the major dominant fertility genes. Meanwhile, the genetic background in different ecotype conventional varieties, the essentiality of which lies in the existence of polygenes, was different and influenced the major gene expression deeply. It was also indicated that genetic background of middle-season variety Nanjing 11 was more complicated than that of early-season variety Erjiuqing and late-season variety GER-1 as well. Finally, the differences of drift in critical temperature inducing male sterility of P(T)GMS lines (for short term DCT) and the strategy of breeding practically usable P(T)GMS line with slighter DCT were discussed in the paper.

Crosses, Genetic↗
PubMed1999

The ABCR gene in recessive and dominant Stargardt diseases: a genetic pathway in macular degeneration.

Stargardt disease (STGD) is a juvenile-onset macular dystrophy and can be inherited in an autosomal recessive or in an autosomal dominant manner. Genes involved in dominant STDG have been mapped to human chromosomes 13q (STGD2) and 6q (STGD3). Here, we identify a new kindred with dominant STGD and demonstrate genetic linkage to the STGD3 locus. Because of a more severe macular degeneration phenotype of one of the patients in this family, the gene responsible for the recessive STGD1, ABCR, was analyzed for sequence variants in all family members. One allele of the ABCR gene was shown to carry a stop codon-generating mutation (R152X) in three family members, including the one patient who had inherited also the dominant gene. A grandparent of that patient with the same ABCR mutation developed age-related macular degeneration (AMD), consistent with our earlier observation that some variants in the ABCR gene may increase susceptibility to AMD in the heterozygous state. Based on these results, we propose that there is a common genetic pathway in macular degeneration that includes genes for both recessive and dominant STGD.

ATP-Binding Cassette Transporters↗
PubMedDate not supplied

Congenital hereditary bilateral nonattachment of retina: a sibship of two males.

Two brothers, the only two children of nonconsanguineous parents, have no perception of light, bilateral microphthalmos, and degenerative corneal opacities that just allow observation of shallow anterior chambers and cataracts. The right eye of the older was removed at the age of 6 weeks: "congenital retinal detachment" was found. The birth of a subsequent affected son suggests that recessive genes are responsible. An X-linked gene is calculated to be more likely than autosomal recessive genes. These two males may suffer from a form of Norrie's disease without mental deficiency, however, they may be examples of the severest form of "falciform retinal folds" (autosomal recessive) or they may represent the same end-result from a different inherited pathological process. After the birth of the first affected child, the parents had been reassured that this undiagnosed, and at that time unknown condition, would not affect future children. The tragedy of a second affected child followed. We suggest that recessive genes (autosomal or X-linked) be specifically considered--with literature search--in any sporadic case of a bilateral symmetrical condition of the eyes not hitherto well known, especially if congenital, and in the absence of consanguinity of parents affected males in previous maternal generations. The possibility of a dominant mutation when a single case occurs in a sibship should also be considered.

Genes, Recessive↗
PubMed1995

Detection of a recessive major gene for high IgE levels acting independently of specific response to allergens.

The genetic control of the total IgE, the immunoglobulins E involved in allergy, remains still unclear. Although high IgE levels were found to be determined by a recessive major gene in several studies, other modes of inheritance were also reported. Moreover, at least two different genetic mechanisms controlling the IgE regulation have been suggested: one involved in the specific IgE response and the other one in the nonspecific response. To better understand the genetic mechanisms controlling IgE variation, we performed segregation analysis of IgE levels by ignoring or taking into account the specific response to allergens (SRA). Analyses were conducted using the class D regressive model, in a sample of 234 Australian nuclear families randomly selected during the winter months, when IgE levels are the lowest (basal). SRA, when included as a covariate in the model, was defined by one of the three following criteria: (1) raised specific IgE level for one or more allergens, (2) positive skin test for one or more allergens, and (3) at least one of the (1) or (2) criteria. When the presence of SRA is ignored, the familial transmission of total IgE level is compatible with the segregation of a recessive major gene and residual familial correlations. When the presence of SRA is accounted for in the analysis, whether defined by criteria (1), (2), or (3), there is still evidence for a recessive major gene controlling IgE levels but residual familial correlations are no longer significant. In addition, no interaction between this major gene and SRA is shown here. Our results suggest that this gene, which accounts for 28% of the variation of the trait, may be involved in the control of basal IgE production, independently of specific response to allergens.

Adolescent↗
PubMedDate not supplied

Association of the yellow leaf (y10) mutant to soybean chromosome 3.

At least 19 single recessive gene yellow leaf mutants and one duplicate recessive gene mutant have been described in soybean. This study was conducted to associate a yellow leaf mutant, y10, with a specific soybean chromosome by using primary trisomics (2n = 41). Seven soybean primary trisomics were hybridized as female parent with genetic stock strain, T161, carrying y10. F(1) disomic and primary trisomic plants were identified cytologically. One disomic (control) and all primary trisomic plants were allowed to self-pollinate and F(2) populations were classified for green versus yellow leaf mutant. The F(2) population of Triplo 3 segregated in a 17:1 ratio, while a disomic (3:1) ratio was observed with Triplo 8-, 17-, 18-, and 20-derived F(2) populations, suggesting that the y10 locus is on chromosome 3. The y10 locus was examined with four simple sequence repeat (SSR) markers (Satt584, Sat_033, Satt387, and Satt022) from molecular linkage group (MLG) N and y10 was found linked with Satt022. Therefore we confirmed the association of MLG N with chromosome 3. The possible association of y10 with Triplo 16 and Triplo 19 are discussed.

Chromosome Mapping↗
PubMedDate not supplied

Blood ring: an early embryonic lethal condition in chickens.

Blood ring describes a lethal embryonic condition in chickens that is expressed between 48 and 66 h of incubation. The condition is characterized by the presence of uncoalesced blood islands, the absence of vitelline arteries, and a sinus terminalis engorged with erythrocytes. The disorder is inherited as an autosomal recessive trait. The recessive gene has been detected in three commercial populations of chickens with estimated gene frequencies ranging from 0.08 to 0.16. Attempts to identify the mechanism for the blood ring gene's expression have so far been unsuccessful. The gene symbol blr is proposed for the recessive gene.

Alleles↗
PubMed2002

Chromosomal location of genes for resistance to powdery mildew in Chinese wheat lines Jieyan 94-1-1 and Siyan 94-1-2.

Two Chinese wheat lines Jieyan 94-1-1 and Siyan 94-1-2 are resistant to all 120 isolates of Blumeria graminis f. sp. tritici maintained in Weihenstephan, Germany. Monosomic analyses employing the susceptible set of 21 Chinese Spring monosomic lines revealed that the line Jieyan 94-1-1 carries one dominant gene on translocated wheat/rye chromosome 1B/1R and one recessive gene on chromosome 7B, whereas line Siyan 94-1-2 possesses one recessive gene on chromosome 7B and one dominant gene on chromosome 5D. Allelism tests in combination with the use of specific isolates comfirmed that the dominant genes in Jieyan 94-1-1 and Siyan 94-1-2 are Pm8 and Pm2, respectively. The recessive genes present in each of the two lines are shown to be new alleles located on chromosome 7B at the pm 5 locus. The two genes are tentatively designated mljy in Jieyan 94-1-1 and mlsy in Siyan 94-1-2, respectively.

Alleles↗
PubMedDate not supplied

Mutagenicity studies with 5-thio-D-glucose. Cytogenetic investigation in mice, and the sex-linked recessive lethal gene test in Drosophila.

Cytogenetic studies in bone marrow cells and dividing spermatocytes I in male mice and the sex-linked recessive lethal gene test in Drosophila melanogaster were initiated to evaluate the mutagenic potential of 5-thio-D-glucose, a reversible male contraceptive in some mammals. The compound was administered by oral intubation to mice at 40 or 60 mg/kg for various time periods. Oregon-R D. melanogaster males were fed medium containing 600 or 1200 ppm of the substance for 72 hours and mated with virgin Muller-5 females to test for gene mutation. The compound did not enhance structural and numerical chromosomal aberrations or elevate sex-linked recessive lethals in D. melanogaster. It is concluded that under the conditions of the present study 5-thio is a nonmutagenic male antifertility agent.

Animals↗
PubMed1999

Segregation analysis of the specific response to allergens: a recessive major gene controls the specific IgE response to Timothy grass pollen.

Segregation analysis of the specific response to allergens (SRA) was performed in a sample of 234 randomly selected Australian families using the regressive models. Various SRA phenotypes were considered using broad and narrow definitions of these phenotypes, according to the type of test used, skin test or RAST test, and the specificity of the response to allergen. Strong evidence for familial dependencies among blood relatives was shown for most SRA phenotypes, especially when using a broad definition. There was no evidence for a Mendelian factor accounting for the familial transmission of these broadest phenotypes, which may involve multiple factors preventing the clear detection of a major effect with Mendelian transmission. However, segregation of a Mendelian recessive major gene was detected for one SRA sub-phenotype, the IgE response to a single allergen, Timothy grass pollen, measured by the RAST test. Identification of a specific SRA phenotype controlled by a major gene may have important implications for further linkage studies.

Adolescent↗
PubMed1987

Recessive cancer genes in meningiomas? An analysis of 31 cases.

Cytogenetic studies on 31 human meningiomas revealed clonal abnormalities in 14 of them. Monosomy 22 was present in three cases as the only abnormality, and in five it was associated with monosomy 18, monosomy 14, loss of X, loss of Y, and trisomy 20, respectively. We found a number of rearrangements involving chromosome #22: an i psu dic(22)(pter----q11::q11----pter) in two cases and a t(18;22)(q12;q11) in another case. Two cases showed a complex translocation involving #7 and #14: t(2;7;14)(q23;q36;q22) and t(1;7;14)(q25;q32;q22), respectively. Other clonal chromosome abnormalities were del(1p) (present in two cases); der(9)t(9;?)(q34;?); der(7)t(7;?)(q31;?); der(22)t(22;?)(q11;?); and a 9p+ chromosome. The relevance for the pathogenesis of human meningiomas of these chromosome anomalies is also discussed with reference to the previous literature. The possible involvement of recessive cancer genes present on the long arm of chromosome #22 is also discussed.

Adult↗
PubMed1983

[Role of recessive lethal genes in spontaneous embryonal lethality in random-bred rat and mouse populations in Cuba].

Spontaneous embryonic lethality and the recessive lethal gene frequency in the gene pool of noninbred mice and rats of the bioteria of the National Research Center of the Cuba Republic Academy of Sciences were investigated. It was established that the level of spontaneous embryonic lethality among mice increased greatly as compared to that in 1977 and was 40% (versus 20% in 1977). Of this number, 30% falls within the postimplantation period. In noninbred rats, these values constituted 21.4 and 8.1%, respectively. High embryonic lethality among noninbred mice may be determined by genetic causes and the influence of ecological factors. The frequency of recessive lethals among noninbred mice was 28%, that among rats 20.8%. It is characteristic that in both categories, recessive lethals became apparent only in the postimplantation period of embryogenesis.

Animals↗
PubMed1983

Familial agnathia-holoprosencephaly.

Two stillborn sisters had characteristics of both agnathia and holoprosencephaly. Familial occurrence implies that agnathia-holoprosencephaly may be determined by a single recessive gene, something to be taken into account when counseling such families. Evidence from human experience and various animal models suggests that agnathia-holoprosencephaly represents a causally heterogeneous single developmental field defect. Anatomical studies of these two stillborn sisters support the view that they shared a developmental field defect which affected structures in the face, cranial cavity, and upper neck. The pathogenesis of these variably expressed defects probably relates to defects in neural crest cells of cranial origin and/or to underlying mesodermal support elements of these cells.

Abnormalities, Multiple↗
PubMed1983

Trichoodontoonychial dysplasia--a new meso-ectodermal dysplasia.

We describe a hitherto apparently undescribed ectodermal dysplasia in four siblings. The condition combines severe hypotrichosis, hypoplasia of enamel leading to secondary anodontia, dystrophic nails, supernumerary nipples, nevus pigmentosus, bone deficiency of the fronto-parietal region, and other anomalies. This condition is probably due to an autosomal-recessive gene. ?

Adolescent↗
PubMed1983

AREDYLD: a syndrome combining an acrorenal field defect, ectodermal dysplasia, lipoatrophic diabetes, and other manifestations.

A daughter of second cousins is described as having lipoatrophic diabetes, unusual facial appearance, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, short stature, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and hypopigmented areolae with diffuse limits, hyperostosis of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies. Her sister, dead at 1 1/2 years, had had some manifestations of the condition; seven sibs are normal. It is more likely that the whole clinical picture represents a single syndrome rather than homozygosity of different autosomal-recessive genes.

Abnormalities, Multiple↗
PubMed1985

A lethal autosomal recessive syndrome of multiple congenital contractures.

We describe 16 cases of a lethal syndrome with multiple congenital contractures from ten families. The main clinical findings included intrauterine growth retardation with marked fetal hydrops, multiple contractures, and facial abnormalities, especially micrognathia. At autopsy, pulmonary hypoplasia and muscular atrophy were present. There was a paucity of anterior horn motor neurons in the four studied cases. We think that the cases represent the same clinical entity, probably caused by homozygosity of an autosomal recessive gene. The syndrome resembles the Pena-Shokeir I syndrome, but seems to differ in some respects, including length of survival and presence of hydrops. Prenatal diagnosis of this syndrome is possible after the 16th week of pregnancy with ultrasound.

Contracture↗
PubMed1985

Uncomplicated familial hypospadias: evidence for autosomal recessive inheritance.

Uncomplicated hypospadias was found in eight members of a large, consanguineous Bedouin family. Virilization and fertility were normal in the only postpubertal individual. The inheritance is most likely autosomal recessive and we suggest that in some of the familial cases in which polygenic or multifactorial inheritance was previously proposed, homozygosity for recessive genes may be responsible for the increased risk to siblings. Dominantly transmitted hypertelorism with diastema was an independent and coincidental finding in this family.

Consanguinity↗