Identification ofPATCHED mutations in medulloblastomas by direct sequencing
نویسندگان
چکیده
منابع مشابه
A strategy for direct mapping and identification of mutations by whole-genome sequencing.
Mutant screens have proven powerful for genetic dissection of a myriad of biological processes, but subsequent identification and isolation of the causative mutations are usually complex and time consuming. We have made the process easier by establishing a novel strategy that employs whole-genome sequencing to simultaneously map and identify mutations without the need for any prior genetic mapp...
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Background and Aims: lamivudine is amongst the antiviral for drug chronic hepatitis B treatment. During therapy with lamivudine, variants may emerge with YMDD mutation in the reverse transcriptase (RT) region of polymerase gene. This mutation might have a role in drug resistant for HBV. Materials and Methods: HBV DNA extraction from serum sample of 88 patients, were subjected to nested PCR for ...
متن کاملidentification of genes and mutations in 10 iranian families with nsarhl by whole exome sequencing
introduction: with prevalence figures close to 0.2% at birth, hearing loss (hl) is the most frequent sensory impairment in childhood. in developed countries, genetic causes account for more than 60% of congenital hl, most often resulting in non-syndromic deafness, which is usually autosomal recessive. hereditary nonsyndromic hearing loss (nshl) in iran is highly heterogeneous, rendering molecul...
متن کاملIdentification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.
The Lesch-Nyhan (LN) syndrome is a severe X chromosome-linked disease that results from a deficiency of the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HPRT). The mutations leading to the disease are heterogeneous and frequently arise as de novo events. We have identified nucleotide alterations in 15 independently arising HPRT-deficiency cases by direct DNA sequencing of in vi...
متن کاملdetection of embb gene mutations in emb-resistant mycobacterium tuberculosis isolates from isfahan province by pcr-sscp and direct sequencing
conclusions we concluded from the results that the frequency of emb-resistant m. tuberculosis cases in iran is lower than that of many other regions. the pcr-sscp technique can separate resistant isolates from sensitive isolates. the sequencing results of this study showed mutation in codons 309 and 299 of the embb gene. in none of the resistant isolates, mutation was observed in codon 306. fur...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2000
ISSN: 1059-7794,1098-1004
DOI: 10.1002/1098-1004(200007)16:1<89::aid-humu18>3.0.co;2-7