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At least 649 records · Page 36Linked to original sources
PubMed2000

[Genetic analysis for introgressive genes of petal color from Gossypium bickii to G. hirsutum L].

The character of red petals with a large basal spot was transferred from Gossypium bickii into G. hirsutum L., and the pure lines (HBRL) with the character were obtained by Liang Zhenglan in 1988. Results of genetic analysis for G. hirsutum pure line of red petals (R3bic) and large basal spot (R2bic) were reported in the present study. The large basal spot was dominant to the small basal-spot and spotlessness of G. hirsutum. R2bic was shown to be allelic to R2 of G. hirsutum, and R2bic, R2 and r2 were multiple alleles. R2bic was found to be linked with Lc1, and linkage between R2bic and Lc1 was estimated at 37.31 +/- 2.44 centimorgans, The red petal (R3bic) was epistatic dominance to the yellow petal (Y1) and cream petal (y1), and R3bic is closely linked with R2bic. It is proposed that the introgressive gene of the large basal spot from G. bickii into G. hirsutum be assigned gene symbol R2bic, and the red petals be given the gene symbol R3bic.

Color↗
PubMed1997

Congenital myasthenic syndromes: clinical and genetic analysis of 18 patients.

Congenital myasthenic syndromes (CMS) are a group of rare gentic disorders in which neuromuscular transmission is compromised by a variety of mechanisms, other than autoimmunity. Recently, substantial progress has been made by the identification of mutations in acetylcholine receptor (AChR) genes which cause CMS. We report on the clinical and genetic analysis of 18 independent CMS patients. All patients were clinically classified as sporadic cases of CMS (group III according to ENMC consensus). In order to investigate the prevalence of AChR mutations in this group we analyzed structural domains of the AChR genes at strategically important sites - the channel pore-lining regions (M2 domains) of the alpha, beta and epsilon subunits, and the extracellular domain close the acetylcholine (ACh) binding site. All patients showed wild-type sequence in these regions, mutations were not detected. Therefore, we conclude, that point mutations in domains which are known to cause slow channel congenital myasthenic syndromes (SCCMS) are rare in group III-patients in Germany. Determining the genetic defects causing CMS may have implications for diagnosis and genetic counseling of CMS patients. Moreover, this may be important for the therapeutic management of CMS as some patients may profit form quinidine sulfate. Therefore, further efforts will be undertaken to elucidate the underlying defects of CMS.

Adolescent↗
PubMed1988

A classical genetic analysis of two apomorphine-induced behaviors in the mouse.

Apomorphine (3 mg/kg) produced in C57BL/6 (C57) mice a clear-cut increase in locomotor activity and climbing behavior in comparison with saline, while in DBA/2 (DBA) mice it produced a clear-cut decrease in locomotion and a small reduction in climbing behavior. Genetic analysis involving F1 and F2 hybrids and the backcross populations (F1 X C57; F1 X DBA) indicated that apomorphine-induced locomotion and climbing are inherited through different modes of inheritance. With regard to climbing behavior the mean analysis of apomorphine parameters showed that the additive-dominance model fitted adequately, while this single model did not fit the locomotor activity data for which the best fitting model involved epistatic parameter. Moreover, a zero correlation between the two behaviors in the F2 generation resulted, indicating that no relationship exists between these apomorphine-induced behaviors under our experimental conditions. These results suggest that the horizontal locomotion and climbing are distinct behaviors controlled, at least in part, by different genetic factors related to different dopaminergic mechanisms.

Animals↗
PubMedDate not supplied

[Spinocerebellar ataxia type 7: clinical and molecular genetic analysis of a Mexican family].

INTRODUCTION: Spinocerebellar ataxias (SCA) constitute a group of neurodegenerative diseases characterized by cerebellar disfunction alone or associated with other neurological anomalies. The combination of progressive cerebellar ataxia, macular pigment dystrophy, ophtalmoplegia, spasticity and an autosomal dominant pattern of transmission is characteristic of SCA 7. Genome wide linkage analysis mapped the defective gene to 3p12 13. OBJECTIVE: To describe a Mexican family with SCA 7. CASE REPORTS: We present a family pedigree of 13 individuals with ataxia and other neurologic findings in 3 generations. The evaluation consisted of a complete clinical and neurologic examination; neuropsychologic, neurophysiologic, ophthalmologic, neuroradiologic assessments and a molecular genetic study. The first 2 generations had a history of gait disturbance and visual loss. We objectively found a global cerebellar syndrome, pyramidal signs, visual impairment and ophtalmoparesis in variable grades in all members of the third generation All had progressive retinal degeneration, cerebellar, brainstem and hemispheric atrophy. We observed anticipation phenomena. Genetic analysis of the father of the third generation showed expansion of CAG triplet repeats at the SCA 7 gene. CONCLUSION: The clinical and genetic findings confirmed the diagnosis of SCA 7, and this is the first report in a Mexican family.

Adult↗
PubMed1997

[Genetic analysis of differences in dopa decarboxylase activity between two Drosophila virilis lines differing in dopamine content].

Activity of dopa decarboxylase (DDC) in two Drosophila virilis lines differing in dopamine (DA) content was investigated. The activity was shown to be significantly higher in flies with lower DA content. A possible reason for this phenomenon is discussed. Genetic analysis of the difference showed that DDC activity in Drosophila virilis is controlled by single autosomal gene (or a cluster of tightly linked genes).

Animals↗
PubMed2004

Genetic analysis of pathways regulated by the von Hippel-Lindau tumor suppressor in Caenorhabditis elegans.

The von Hippel-Lindau (VHL) tumor suppressor functions as a ubiquitin ligase that mediates proteolytic inactivation of hydroxylated alpha subunits of hypoxia-inducible factor (HIF). Although studies of VHL-defective renal carcinoma cells suggest the existence of other VHL tumor suppressor pathways, dysregulation of the HIF transcriptional cascade has extensive effects that make it difficult to distinguish whether, and to what extent, observed abnormalities in these cells represent effects on pathways that are distinct from HIF. Here, we report on a genetic analysis of HIF-dependent and -independent effects of VHL inactivation by studying gene expression patterns in Caenorhabditis elegans. We show tight conservation of the HIF-1/VHL-1/EGL-9 hydroxylase pathway. However, persisting differential gene expression in hif-1 versus hif-1; vhl-1 double mutant worms clearly distinguished HIF-1-independent effects of VHL-1 inactivation. Genomic clustering, predicted functional similarities, and a common pattern of dysregulation in both vhl-1 worms and a set of mutants (dpy-18, let-268, gon-1, mig-17, and unc-6), with different defects in extracellular matrix formation, suggest that dysregulation of these genes reflects a discrete HIF-1-independent function of VHL-1 that is connected with extracellular matrix function.

Animals↗
PubMed2001

Genetic analysis of TAF68/61 reveals links to cell cycle regulators.

In yeast, inactivation of certain TBP-associated factors (TAF(II)s) results in arrest at specific stages of the cell cycle. In some cases, cell cycle arrest is not observed because overlapping defects in other cellular processes precludes the manifestation of an arrest phenotype. In the latter situation, genetic analysis has the potential to reveal the involvement of TAF(II)s in cell cycle regulation. In this report, a temperature-sensitive mutant of TAF68/61 was used to screen for high-copy dosage suppressors of its growth defect. Ten genes were isolated: TAF suppressor genes, TSGs 1-10. Remarkably, most TSGs have either a genetic or a direct link to control of the G(2)/M transition. Moreover, eight of the 10 TSGs can suppress a CDC28 mutant specifically defective for mitosis (cdc28-1N) but not an allele defective for passage through start. The identification of these genes as suppressors of cdc28-1N has identified four unreported suppressors of this allele. Moreover, synthetic lethality is observed between taf68-9 and cdc28-1N. The isolation of multiple genes involved in the control of a specific phase of the cell cycle argue that the arrest phenotypes of certain TAF(II) mutants reflect their role in specifically regulating cell cycle functions.

CDC28 Protein Kinase, S cerevisiae↗
PubMed1995

Genetic analysis of a family of lactate dehydrogenase A subunit deficiency.

Lactate dehydrogenase A subunit (LDH-A) deficiency is an inherited metabolic myopathy of glycolysis. The severity of this disease varies from case to case. We reported non-consanguineous male sibling cases who had severe muscle pain and rhabdomyolysis during anaerobic exercise. Genetic analysis revealed 20 base pair deletion of the sixth exon of the LDH-A gene. There was no difference in the gene abnormality between our patients and previously reported female cases who had history of consanguinity and lower degree of symptoms. The differences in disease severity were not due to genomic abnormality in our two families.

Adult↗
PubMed2005

Genetic analysis of anal atresia in pigs: evidence for segregation at two main loci.

Anal atresia is a relatively common congenital malformation that occurs in about 1 out of 5000 infants, caused by abnormal hindgut development of the embryo, often associated with other developmental anomalies (e.g., Currarino, Townes-Brock, Pallister-Hall syndromes, and VATER association). Genetic analysis in human families is exceedingly difficult due to the multifactorial nature of the trait. In pigs, anal atresia occurs at a higher incidence (0.18%) than in humans. A complete genome scan (165 microsatellite markers) was performed using a backcross pedigree previously obtained by crossing affected animals from a partially inbred line, selected for a high incidence of anal atresia, with an unaffected male of a different breed (Meishan). The data set was analyzed with classical linkage (TWOPOINT) and nonparametric genetic methods (NPL, Non-Parametric Linkage, and TDT, Transmission Disequilibrium Test). Both methods support association of the trait with two loci on Chromosomes 9 and 15. GLI2 (GLI-Kruppel family member GLI2) was identified as a positional candidate gene based on comparative mapping; radiation hybrid mapping confirmed that this locus is located within the QTL region.

Animals↗
PubMed1991

Molecular genetic analysis of complete hydatidiform moles.

Complete hydatidiform moles (CHM) are the most common form of gestational trophoblastic disease and a frequent antecedent to choriocarcinoma. Cytogenetic investigations into the origin of these tumors have shown that they can arise by virtue of unusual fertilization events. In this study we used molecular genetic "fingerprinting" methods to examine the genome of 22 consecutive CHM in order to determine their derivation. We found that 60% contained alleles consistent with a completely homozygous androgenic origin. The remaining 40% were heterozygous for marker alleles; half of these were completely androgenic in origin. The other half of these heterozygous CHM contained alleles from the maternal genome, indicating a biparental contribution. These findings suggest that the pathogenesis of CHM is more heterogenous than previously suspected, and can arise from biparental fertilization events. In addition, we found that mutations occur frequently at many loci in these tumors, which may reflect a generalized genetic instability perhaps related to subsequent malignant change. Thus, molecular genetic analysis of CHM provides new insights into the genesis of CHM and will be a powerful method for understanding their clinical biology.

Alleles↗
PubMed2002

Anomalies of human sexual development: clinical aspects and genetic analysis.

Disorders of human sex determination result in malformations of the external and internal genitalia. These malformations may vary from sexual ambiguity to complete sex reversal (XY female, XX male). Most of the knowledge of the molecular mechanisms involved in the mammalian sex determination pathway has been derived from the genetic analysis of intersex patients. Clinical management of these conditions critically depends on a precise understanding of their pathophysiology. Until recently, only transcription factors such as SRY, SOX9, DAX1, WT1 and SF1 were known to be responsible for abnormal gonadal development and sexual ambiguity. Gonadal dysgenesis may be isolated, as in the case of SRY mutations, or associated with abnormal development of other organs, such as bone or adrenals, consistent with the spatial expression profile of the disrupted genes (SOX9 or SF1). WNT4 is a new sex-determining signalling molecule. Deletions of Wnt4 were shown to be responsible for the masculinization of XX mouse pups while its duplication and overexpression in humans leads to XY sex reversal. Similarly, duplications of loci containing DAX1 or SOX9 have also been shown to cause sex reversal. These results support the emerging concept that mammalian sex determination is dosage sensitive at multiple steps of its pathway.

Aging↗
PubMed1993

Genetic analysis of four differing traits (MHC haplotype, tumor response, CD4:CD8 ratio, ev 17) in CB and CC congenic chickens.

Two closely related inbred lines of chickens, CB and CC, were compared for major histocompatibility complex (MHC) haplotype, response to tumors induced by Rous sarcoma virus and CD4:CD8 ratio. Genetic analysis showed that all the above traits were associated with the MHC. In all CB chickens, we found an additional endogenous virus, ev 17, a proviral sequence lacking in all tested CC animals. From our analysis and data from the literature, we presume that the presence of ev 17 in CB chickens is probably caused by gene duplication of ev 1 with extensive nucleotide alterations. Our analysis with (CB x CC) x CC backcrosses demonstrate that ev 17 is not linked to the chicken B complex. From our experiments, we conclude that inbred CB and CC chickens differ in MHC and ev 17, and we established additional congenic inbred lines with and without the proviral locus ev 17.

Animals↗
PubMed1991

Nucleotide sequence and genetic analysis of a 13.1-kilobase-pair Pseudomonas denitrificans DNA fragment containing five cob genes and identification of structural genes encoding Cob(I)alamin adenosyltransferase, cobyric acid synthase, and bifunctional cobinamide kinase-cobinamide phosphate guanylyltransferase.

A 13.1-kb DNA fragment carrying Pseudomonas denitrificans cob genes has been sequenced. The nucleotide sequence and genetic analysis revealed that this fragment contained five different cob genes named cobN to cobQ and cobW. Based on the similarity of NH2-terminal sequences and molecular weights of the purified Cob proteins, CobQ was identified as cobyric acid synthase, CobP was identified as a bifunctional enzyme exhibiting both cobinamide kinase and cobinamide phosphate guanylyltransferase activities, and CobO was identified as cob(I)alamin adenosyltransferase. CobN is proposed to play a role in cobalt insertion reactions. Four other open reading frames were identified on the 13.1-kb fragment, but their chromosomal inactivation did not lead to a cobalamin-minus phenotype.

Alkyl and Aryl Transferases↗
PubMed2000

Genetic analysis of mortality in murine angiostrongyliasis costaricensis using SMXA recombinant inbred mouse strains.

The SMXA recombinant inbred mouse strain set was produced by systematic inbreeding from the F2 generation of a cross between two progenitor inbred strains, A/J and SM/J, which differed markedly with respect to the patterns of infection with Angiostrongylus costaricensis. We have applied this set to genetic analysis of mouse susceptibility to this nematode infection. The mortality was variable among substrains of the SMXA RI strains, indicating the involvement of multiple genes. Linkage analysis showed several chromosomal regions closely linked to mortality; chromosome 6 (D6Rik86, 87; P<==0.001), 10 (D10Rik66-D10Mit12; P=0.0058), 13 (D13Rik79, 80; P=0.0096) and 17 (D17Mit28-D17Rik76; P=0.0088).

Angiostrongylus↗
PubMed2002

Molecular genetic analysis of para-Bombay phenotypes in Chinese: a novel non-functional FUT1 allele is identified.

BACKGROUND AND OBJECTIVES: The para-Bombay phenotype (also known as H-deficient secretor) is characterized by a lack of ABH antigens on red cells, but ABH substances are found in saliva. Molecular genetic analysis was performed for five Chinese individuals serologically typed as para-Bombay. MATERIALS AND METHODS: ABO genotyping and mutational analysis of both FUT1 (or H) and FUT2 (or Se) loci were performed for these individuals using the polymerase chain reaction, single-strand conformation polymorphism analysis and direct DNA sequencing. RESULTS: The ABO genotypes of these para-Bombay individuals correlated with the types of ABH substances found in the saliva. Their FUT1 genotypes were h1h2 (three individuals), h2h2 (one individual) and h2h6 (one individual). Alleles h1 (547-552delAG) and h2 (880-882delTT) were known frameshift mutations, while h6 (522C > A) was a missense mutation (Phe174Leu) not previously reported. These three mutations were rare sequence variations, each with an allele frequency of less than 0.005. Phe174 might be functionally important because this residue is conserved from mouse to human. Their FUT2 genotypes were Se357se357,385 for the h2h6 individual and Se357Se357) for the others. Both FUT2 alleles were known: one functional (Se357) and one weakly functional (se357,385). That they carried at least one copy of a functional FUT2 allele was consistent with their secretor status. As FUT1 and FUT2 are adjacent on 19q13.3, there are three possible haplotypes in these para-Bombay individuals: h1-Se357; h2-Se357; and h6-se357,385. CONCLUSIONS: A novel non-functional FUT1 allele (522C > A, or Phe174Leu) was identified in a para-Bombay individual and on a se357,385 haplotype background.

ABO Blood-Group System↗
PubMed2005

Genetic analysis of tall stature.

Tall stature is less often experienced as an important problem than short stature. However, a correct diagnosis may be of eminent importance, especially when interventions are planned, or to know the natural history. Overgrowth can be caused by endocrine disorders and skeletal dysplasias, but also by several genetic syndromes. Despite a systematic diagnostic approach, there will be patients with tall stature who do not fit a known diagnosis. In this group of patients possibilities of genetic analysis do exist, but are not common practice. The FMR1 gene should be analyzed in patients with tall stature and mental retardation, and in these patients the NSD1 gene can be considered whenever some features of Sotos syndrome do exist. In tall patients without mental retardation and some features of Sotos or Beckwith-Wiedemann syndrome it may still be useful to look for mutations in the NSD1 gene, but also for changes in the 11p15 region. The various possibilities are discussed and placed in a flowchart.

Body Height↗