نتایج جستجو برای: large genomic rearrangements
تعداد نتایج: 1142013 فیلتر نتایج به سال:
We have previously reported that reading-frame usage and functional diversification is developmentally regulated, with virtually all TCRB DJ mRNA transcripts using a single reading frame at 8 weeks of gestational age, tapering to 50% by adult life. We used the polymerase chain reaction to create genomic libraries of DJ rearrangements in the TCRB locus from thymuses at 7.7, 10, and 16 weeks of g...
BACKGROUND Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12, a large gene spanning 470 kb of genomic DNA. So far, only micromutations in the 66 exons encoding the longest open reading frame (ORF) have been described, and account for about 80% of mutations. OBJECTIVE To test the hypothesi...
The theoretical genome rearrangement problem (sorting a permutation by transpositions and inversions) has attracted a good deal of attention from mathematicians and computer scientists, and comparative genome sequence data from closely related microbial strains and species are now accumulating at a rapid pace. Detailed inspection of this data will help us understand the evolutionary forces that...
Uterine leiomyomas (ULs) are benign monoclonal tumors originating from myometrial tissue in the uterus. Genetic pathways that lead to myometrial transformation into leiomyomas are largely unknown. Approximately 40% of ULs are karyotypically abnormal by G-banding; however, the remaining 60% of leiomyomas do not contain cytogenetically visible genomic rearrangements. Recent technological advances...
Background The use of multiplex ligation-dependent probe amplification (MLPA) to detect large scale rearrangements is now a standard component of BRCA1 and BRCA2 gene testing in the clinical setting. With the cost of full Sanger sequencing up to 4 times higher than the cost of MLPA, it is important not only to determine the prevalence of these mutations but to ascertain the probability that a f...
Transposable elements are one of major sources to cause genomic instability through various mechanisms including de novo insertion, insertion-mediated genomic deletion, and recombination-associated genomic deletion. Among them is Alu element which is the most abundant element, composing ~10% of the human genome. The element emerged in the primate genome 65 million years ago and has since propag...
BACKGROUND AND AIMS Lynch syndrome is caused by germ-line mismatch repair gene mutations. We examined the phenotypic differences between MLH1 and MSH2 gene mutation carriers and whether mutation type (point versus large rearrangement) affected phenotypic expression. METHODS This is a cross-sectional prevalence study of 1,914 unrelated probands undergoing clinical genetic testing for MLH1 and ...
Genomic disorders are genetic diseases that are caused by rearrangements of chromosomal material via deletions, duplications, and inversions of unique genomic segments at specific regions. Such rearrangements could result from recurrent non-allelic homologous recombination between low copy repeats. In cases where the breakpoints flank the low copy repeats, deletion of chromosomal segments is of...
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