To determine the mode of inheritance of congenital glaucoma, segregation analysis was performed using two different models: the transmission probability model and the mixed model. Whereas the latter, testing for monogenic inheritance in the presence of both monogenic and polygenic components, results in strong evidence for a major locus, the former, testing for Mendelian segregation at one locus, rejects this hypothesis. The differences in the results of these two models are discussed and are attributed to the underlying structure of each. Genetic heterogeneity of congenital glucoma is proposed.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1684943 | PMC |
Publication Analysis
Top Keywords
Similar Publications
Characterization of QTLs for diameter in panicle neck and substitution mapping of and in rice ( L.).
Breed Sci
September 2024
The United Graduate School of Agricultural Sciences, Kagoshima University, 1-21-24 Korimoto, Kagoshima 890-8580, Japan.
The vascular bundle system in the panicle neck of rice ( L.) connects the culm to the panicle and transports assimilates. The number of vascular bundles in the panicle neck (VBN) is correlated with the diameter of the panicle neck (DPN), but there are few reported QTLs for DPN.
View Article and Find Full Text PDFFade into you: genetic control of pigmentation patterns in red-flesh apple ().
Front Plant Sci
January 2025
Univ Angers, Institut Agro, INRAE, IRHS, SFR QUASAV, Angers, France.
The genetic basis of type 1 red-flesh color development in apple () depends upon a particular allele of the gene. Interestingly, type 1 red-flesh apples are fully red after fruit set, but anthocyanin pigmentation in apple fruit cortex may decrease during fruit growth and maturation, leading to variable red patterning and intensities in the mature cortical flesh. We developed a histogram-based color analysis method to quantitatively estimate pigmentation patterns.
View Article and Find Full Text PDF4D live tracing reveals distinct movement trajectories of meiotic chromosomes.
Life Med
December 2024
Co-innovation Center of Neuroregeneration, Nantong University, Nantong 226001, China.
Proper chromosome alignment at the spindle equator is a prerequisite for accurate chromosome segregation during cell division. However, the chromosome movement trajectories prior to alignment remain elusive. Here, we established a 4D imaging analysis framework to visualize chromosome dynamics and develop a deep-learning model for chromosome movement trajectory classification.
View Article and Find Full Text PDFOocyte/zygote/embryo maturation arrest: a clinical study expanding the phenotype of NOBOX variants.
J Assist Reprod Genet
January 2025
Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Clinical Sciences, Research Group Genetics, Reproduction and Development, Centre for Medical Genetics, Laarbeeklaan 101, 1090, Brussels, Belgium.
Purpose: Primary ovarian insufficiency (POI) is an important cause of female infertility, stemming from follicle dysfunction or premature oocyte depletion. Pathogenic variants in genes such as NOBOX, GDF9, BMP15, and FSHR have been linked to POI. NOBOX, a transcription factor expressed in oocytes and granulosa cells, plays a pivotal role in folliculogenesis.
View Article and Find Full Text PDFIntegrative genomic analysis of DLBCL identifies immune environments associated with bispecific antibody response.
Blood
January 2025
University of Chicago, Chicago, Illinois, United States.
Most diffuse large B-cell lymphoma (DLBCL) patients treated with immunotherapies such as bispecific antibodies (BsAb) or chimeric antigen receptor (CAR) T cells fail to achieve durable treatment responses, underscoring the need for a deeper understanding of mechanisms that regulate the immune environment and response to treatment. Here, an integrative, multi-omic approach was applied to multiple large independent datasets in order to characterize DLBCL immune environments, and to define their association with tumor cell-intrinsic genomic alterations and outcomes to CD19-directed CAR T-cell and CD20 x CD3 BsAb therapies. This approach effectively segregated DLBCLs into four immune quadrants (IQ) defined by cell-of-origin and immune-related gene set expression scores.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!