نتایج جستجو برای: 9 bp deletion
تعداد نتایج: 604247 فیلتر نتایج به سال:
identification of a de novo 3bp deletion in cryba1/a3 gene in autosomal dominant congenital cataract
autosomal dominant congenital cataract (adcc) is the most common form of inherited cataracts and accounts for one-third of congenital cataracts. heterozygous null mutations in the crystallin genes are the major cause of the adcc. this study aims to detect the mutational spectrum of four crystallin genes, cryba1/a3 , crybb1 , crybb2 and crygd in an iranian family. genomic dna was isolated from w...
Little is known about the molecular mechanisms by which the embryo proper and suspensor of plant embryos activate specific gene sets shortly after fertilization. We analyzed the upstream region of the scarlet runner bean (Phaseolus coccineus) G564 gene to understand how genes are activated specifically within the suspensor during early embryo development. Previously, we showed that the G564 ups...
OBJECTIVE Nonsyndromic cleft lip with or without cleft palate (NS-CL/P) are among the most common congenital birth defects worldwide. Several lines of evidence point to the involvement of folate, as well as folate metabolizing enzymes in risk reduction of orofacial clefts. Dihydrofolate reductase (DHFR) enzyme participates in the metabolic cycle of folate and has a crucial role in DNA synthesis...
BACKGROUND Coronary artery disease (CAD) is the most common heart disease worldwide. Association of CAD with variants in the myocyte enhancer factor 2A (MEF2A) gene, the first identified CAD-causing gene, has attracted special attention but the results are controversial. We aimed to evaluate this genetic association via a case-control study and meta-analysis. METHODOLOGY/PRINCIPAL FINDINGS We...
The Werner syndrome (WS) is a rare autosomal recessive progeroid disorder. The Werner syndrome gene (WRN) has recently been identified as a member of the helicase family. Four distinct mutations were previously reported in three Japanese and one Syrian WS pedigrees. The latter mutation was originally described as a 4 bp deletion spanning a spliced junction. It is now shown that this mutation re...
In contrast to FLT3 ITD mutations, in-frame deletions in the FLT3 gene have rarely been described in adult acute leukemia. We report two cases of AML with uncommon in-frame mutations in the juxtamembrane domain of the FLT3 gene: a 3-bp (c.1770_1774delCTACGinsGT; p.F590_V592delinsLF) deletion/insertion and a 12-bp (c.1780_1791delTTCAGAGAATAT; p.F594_Y597del) deletion. We verified by sequencing t...
We have studied the in vivo replication properties of plasmids carrying deletion mutations within cloned adenovirus terminal sequences. Deletion mapping located the adenovirus DNA replication origin entirely within the first 67 bp of the adenovirus inverted terminal repeat. This region could be further subdivided into two functional domains: a minimal replication origin and an adjacent auxillar...
with break points in introns 11 and 13 resulting in loss of exons 12 and 13 (Figure 2A and B). Further examination of the region showed a 34-bp repeat (differing by only 1 bp) flanking the break points, suggesting homologous recombination as the mechanism for generating this deletion. The predicted result of this deletion would be that exon 11 splices directly to exon 14 and remains in frame, r...
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