نتایج جستجو برای: y chromosome deletion
تعداد نتایج: 668358 فیلتر نتایج به سال:
Pathogenicity islands (PAIs) are chromosomal clusters of pathogen-specific virulence genes often found at tRNA loci. In the Yersinia pseudotuberculosis 32777 chromosome, we characterized a 98-kb segment that has all of the characteristic features of a PAI, including insertion in a (phenylalanine) tRNA gene, the presence of a bacteriophage-like integrase-encoding gene, and direct repeats at the ...
We have investigated patterns of evolution in the nonrecombining portion of the Y chromosome in mice by comparing levels of polymorphism within Mus domesticus with levels of divergence between M. domesticus and M. spretus. A 1,277-bp fragment of noncoding sequence flanking the sex determining locus (Sry) was PCR amplified, and 1,063 bases were sequenced and compared among 20 M. domesticus and 1...
A genetic map of the Y chromosome of Drosophila hydei has been constructed from deletion/complementation experiments, with the aid of male sterile mutants of the Y chromosome. A central conclusion of our experiments is that not more than a single complementation group can be detected in each of the lampbrush loop forming sites. Additional complementation groups, functionally independent of lamp...
haematologica | 2011; 96(11) 1575 are partially controlled by an X-linked gene located at Xp22.2. Blood. 1992;80(3):816-24. 17. Garner C, Silver N, Best S, Menzel S, Martin C, Spector TD, et al. Quantitative trait locus on chromosome 8q influences the switch from fetal to adult hemoglobin. Blood. 2004;104(7):2184-6. 18. Menzel S, Thein SL. Genetic architecture of hemoglobin F control. Curr Opin...
Females with XY gonadal dysgenesis are sterile, due to degeneration of the initially present ovaries into nonfunctional streak gonads. Some of these sex-reversal cases can be attributed to mutation or deletion of the SRY gene. We now describe an SRY-deleted 47,XXY female who has one son and two daughters, and one of her daughters has the same 47,XXY karyotype. PCR and FISH analysis revealed tha...
BACKGROUND A ventricular septal defect (VSD) is the most common form of congenital heart disease and is one of the most common cardiovascular anomalies in individuals with chromosome 22q11 deletion syndrome. However, the frequency of a chromosome 22q11 deletion in patients with a VSD is not known. In addition, among patients with a VSD, it is not clear whether particular types of VSD or associa...
A human male-specific Y-chromosomal DNA fragment (lambda YH2D6) has been isolated. By deletion-mapping analysis, 2D6 has been localized to the euchromatic portion of the long arm (Yq11) of the human Y chromosome. Among great apes, this fragment was found to be conserved in male chimpanzee but was lacking in male gorilla and male orangutan. No homologous fragments were detected in females of ora...
Abstract The X-chromosome linked RNA helicase DDX3X plays multiple roles in metabolism and antiviral interferon responses. Some viruses, including SARS-CoV-2, usurp the function of to support viral genome replication evasion interferon. These findings have led development inhibitors as potential agents. However, somatic loss mutations this are neurological disease malignancies, a form non-Hodgk...
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