A non-organic and non-enzymatic extraction method gives higher yields of genomic DNA from whole-blood samples than do nine other methods tested

Lahiri, Debomoy K.; Bye, Steve; Nürnberger, John I.; Hodes, M. E.; Crisp, Margaret

doi:10.1016/0165-022x(92)90014-2

Cited by 170 publications

(98 citation statements)

References 19 publications

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“…Peripheral blood leukocyte DNA was extracted by a rapid method according to Lahiri et al [74,75]. Extracted DNA samples were diluted by 1X TE (10mM Tris-HCl, 1mM Na 2 EDTA at pH 7.8) to 0.1μg/μl for use as the PCR template.…”

Section: Dna Extraction and Pcrmentioning

confidence: 99%

Development of a simple and highly sensitive mutation screening system by enzyme mismatch cleavage with optimized conditions for standard laboratories

Tsuji

Niida

2008

Electrophoresis

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Efficient screening of unknown DNA variations is one of the substantive matters of molecular biology even today. Historically, single-strand conformation polymorphism (SSCP) and heteroduplex analysis (HA) are the most commonly used methods for detecting DNA variations everywhere in the world because of their simplicity. However, the sensitivity of these methods is not satisfactory for screening purpose. Recently, several new PCR based mutation screening methods have been developed, but most of them require special instruments and adjustment of conditions for each DNA sequence to attain the maximum sensitivity, eventually becoming as inconvenient as old methods. Enzyme mismatch cleavage (EMC) is potentially an ideal screening method. With high performance nucleases and once experimental conditions are optimized, it requires only conventional staff and conditions remain the same for each PCR product. In this study we tested four commercially available endonucleases for EMC and optimized the electrophoresis and developing conditions. We prepared 25 known DNA variations consisting of 18 single base substitutions (8 transitions and 10 transversions, including all possible sets of mismatches) and 7 small deletions or insertions. The combination of CEL nuclease, 12% polyacrylamide gel electrophoresis and rapid silver staining can detect all types of mutations and achieved 100% sensitivity.

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Section: Dna Extraction and Pcrmentioning

confidence: 99%

Development of a simple and highly sensitive mutation screening system by enzyme mismatch cleavage with optimized conditions for standard laboratories

Tsuji

Niida

2008

Electrophoresis

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“…The SNP rs1344706 is present in the second intron of the ZNF804A gene (chr2:185778178, dbSNP build 131). A volume of 10 ml of venous blood was obtained from study participants, and DNA was extracted using the highsalt method (Lahiri et al, 1992).…”

Section: Genetics and In Silico Predictionmentioning

confidence: 99%

The ZNF804A Gene: Characterization of a Novel Neural Risk Mechanism for the Major Psychoses

Voineskos

Lerch

Felsky

et al. 2011

Neuropsychopharmacol

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Schizophrenia and bipolar disorder share genetic risk, brain vulnerability, and clinical symptoms. The ZNF804A risk variant, rs1344706, confers susceptibility for both disorders. This study aimed to identify neural mechanisms common to both schizophrenia and bipolar disorder through this variant's potential effects on cortical thickness, white matter tract integrity, and cognitive function. Imaging, genetics, and cognitive measures were ascertained in 62 healthy adults aged between 18 and 59 years. High-resolution multimodal MRI/DTI imaging was used to measure cortical thickness and major frontotemporal and interhemispheric white matter tracts. The general linear model was used to examine the influence of the ZNF804A rs1344706 risk variant on cortical thickness, white matter tract integrity, and cognitive measures. Individuals homozygous for the risk variant ('A' allele) demonstrated reduced cortical gray matter thickness in the superior temporal gyrus, and in the anterior and posterior cingulate cortices compared with C-allele carriers. No effect of the risk variant on microstructural integrity of white matter tracts was found. Reduced attention control was found in risk allele homozygotes, aligning with findings in the anterior cingulate cortex. Our data provide a novel, genetically based neural risk mechanism for the major psychoses by effects of the ZNF804A risk variant on neural structures and cognitive function susceptible in both disorders. Our findings link genetic, imaging, and cognitive susceptibility relevant to both schizophrenia and bipolar disorder.

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“…DNA was extracted using a modified salting out protocol. 18 The ethical committee of the Finnish Red Cross Blood Transfusion Service approved the sample registry.…”

Section: Subjects and Familiesmentioning

confidence: 99%

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A→G mutation of the untranslated RMRP

et al. 2002

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Pleiotropic, recessively inherited cartilage-hair hypoplasia (CHH) is due to mutations in the untranslated RMRP gene on chromosome 9p13-p12 encoding the RNA component of RNase MRP endoribonuclease. We describe 36 different mutations in this gene in 91 Finnish and 44 non-Finnish CHH families. Based on their nature and localisation, these mutations can be classified into three categories: mutations affecting the promoter region, small changes of conserved nucleotides in the transcript, and insertions and duplications in the 5' end of the transcript. The only known functional region that seemed to avoid mutations was a nucleolar localisation signal region between nucleotides 23 -62. The most common mutation in CHH patients was a base substitution G for A at nucleotide 70. This mutation contributed 92% of the mutations in the Finnish CHH patients. Our results using linkage disequilibrium based maximum likelihood estimates with close markers, genealogical studies, and haplotype data suggested that the mutation was introduced to Finland some 3900 -4800 years ago, and before the expansion of the population. The same major mutation accounted for 48% of the mutations among CHH patients from other parts of Europe, North and South America, the Near East, and Australia. In the non-Finnish CHH families, the A70G mutation segregated with the same major haplotype, although shorter, as in most of the Finnish families. In 23 out of these 27 chromosomes, the common region extended over 60 kb, and, therefore, all the chromosomes most likely arose from a solitary event many thousands of years ago.

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A non-organic and non-enzymatic extraction method gives higher yields of genomic DNA from whole-blood samples than do nine other methods tested

Cited by 170 publications

References 19 publications

Development of a simple and highly sensitive mutation screening system by enzyme mismatch cleavage with optimized conditions for standard laboratories

Development of a simple and highly sensitive mutation screening system by enzyme mismatch cleavage with optimized conditions for standard laboratories

The ZNF804A Gene: Characterization of a Novel Neural Risk Mechanism for the Major Psychoses

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A→G mutation of the untranslated RMRP

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