Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:3.1.30.2 (endonuclease)
18,621 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Complementary DNA, transcribed in vitro from purified rabbit globin messenger RNA and made double-stranded, has been inserted into Escherichia coli plasmids pSC101 and pMB9 by the poly(dT)/poly(dA) "tailing" and annealing technique. E. coli transformants given by this DNA preparation have been shown to contain globin sequences by the hybridization of globin RNA to DNA from clones grown and lysed in situ on nitrocellulose filters. An estimate of the amount of inserted globin sequences has been provided by fingerprint analysis of globin mRNA sequences hybridized to the purified plasmid chimeras. Inserted sequences so far subjected to detailed analysis have been ascribed to the rabbit beta globin chain. The susceptibility of inserted beta globin, sequences to the restriction endonuclease EcoRI confirms the existence of a site already found through previous nucleotide sequence analysis.
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PMID:A general method for cloning eukaryotic structural gene sequences. 6 88

The restriction endonuclease sites in and around the human gamma globin gene loci have been mapped using the gel blotting technique of Southern, in both normal DNA and DNA from an individual with hereditary persistence of fetal hemoglobin (HPFH). In normal DNA, the gamma genes are linked to the delta (and beta) globin genes, and the orientation of these genes with respect to transcription is (5') G gamma leads to A gamma leads to delta leads to beta (3'). The distance between the G gamma and A gamma genes is 3.5 kb and that between the A gamma and delta genes is 16 kb. In both normal DNA and HPFH DNA, the gamma genes are interrupted by an intervening sequence, approximately 1 kb in length that is situated between codon positions 99 and 121 of the coding sequence. In different DNA samples, there is polymorphism for the presence or absence of a Hind III site in the intervening sequence of either gamma golbin gene. In HPFH DNA, a deletion of at least 16 kb of DNA has been detected. This deletion starts at a point approximately 12.5 kb from the 3'-end of A gamma gene and extends through the delta and beta globin genes to a point at least 3 kb beyond the 3'-end of beta globin gene.
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PMID:Restriction endonuclease mapping of the human gamma globin gene loci. 46 Nov 96

We have determined the nucleotide sequence of 75 nucleotides of the 3'-untranslated portion of normal human alpha globin mRNA which corresponds to the elongated amino acid sequence of the chain termination mutant Hb Constant Spring. This was accomplished by sequence analysis of cDNA fragments obtained by restriction endonuclease or T4 endonuclease IV cleavage of human globin cDNA synthesized from globin mRNA by use of viral reverse transcriptase. Analysis of cRNA synthesized from cDNA by use of RNA polymerase provided additional confirmatory sequence information. Possible polymorphism has been identified at one site of the sequence. Our sequence overlaps with, and extends the sequence of 43 nucleotides determined by Proudfood and coworkers for the very 3'-terminal portion of human alpha globin mRNA. The complete 3'-untranslated sequence of human alpha globin mRNA (112 nucleotides including termination codon) shows little homology to that of the human or rabbit beta globin mRNAs except for the presence of the hexanucleotide sequence AAUAAA which is found in most eukaryotic mRNAs near the 3'-terminal poly (A).
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PMID:Nucleotide sequence of 3' untranslated portion of human alpha globin mRNA. 90 79

Sequences of 43 and 70 nucleotides adjacent to the 3' terminal poly(A) of human alpha and beta globin mRNAs have been established. Sequence analysis of complementary DNA from both normal and thalassemic globin mRNA preparations was carried out using endonuclease IV digestion and limited synthesis procedures. The two RNA sequences are 83% homologous to rabbit globin mRNA (Proudfoot, 1976), and a part of the alpha globin mRNA sequence codes for the carboxy terminus of human alpha globin Constant Spring (Clegg, Weatherall, and Milner, 1971). This latter result predicts that the 3' noncoding region of human alpha globin mRNA is exactly 112 nucleotides, while the 5' noncoding region is probably about 50 nucleotides.
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PMID:The 3' terminal sequences of human alpha and beta globin messenger RNAs: comparison with rabbit globin messenger RNA. 103 37

Hemoglobin H disease is often caused by deletion of three of the four alpha-globin genes (genotype: --/-alpha). We studied a Japanese girl who had microcytic hypochromic anemia, a decreased alpha/beta globin synthetic ratio and about 8% Hb H in her fresh hemolysate, by means of restriction endonuclease mapping of the alpha-like gene complex (5'-zeta-phi zeta-phi alpha 2-phi alpha 1-alpha 2-alpha 1-theta-3') with zeta- and alpha-specific probes. It was found that the defect of one chromosome was associated with the removal of about 18 kb of DNA, known as --SEA type alpha-thalassemia-1, including the deletion of the part of phi alpha 2, phi alpha 1, alpha 2, alpha 1, and theta globin genes, while the other one was associated with the removal of 3.7 kb of DNA, known as rightward deletion type alpha-thalassemia-2. The results of a family study demonstrated that the deletion haplotype --SEA was inherited from her father's side and the other -alpha 3.7 from her mother's side.
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PMID:[The molecular basis of HbH disease in a Japanese girl]. 261 58

This paper describes a technique of DNA amplification in vitro and its application on detection of sickle cell (Hb S) gene. Genomic DNA was microextracted from dried blood specimen of the first patient with sickle cell trait in China. Target DNA sequence was amplified by the polymerase chain reaction (PCR) with the primers beta 1 (5'-ACACAACTGTGTTCACTAGC-3') and beta 2 (5'-CAACTTCATCCACGTTCACC-3') that primed amplification of an 110-base-pair (bp) segment of beta globin gene. The amplified DNA was digested with a restriction endonuclease Mst II, which has a recognition site at codon 6 in the normal beta globin gene, and cleaved the normal amplified beta globin DNA into two fragments of 54bp and 56 bp which was as an overlap band in agarose gel electrophoresis, while the 110bp fragment amplified from DNA of sickle cell mutation remained uncleaved owing to a single base substitution (A----T) at codon 6 in the mutation. DNA amplification method is rapid, sensitive and simple, and does not require radioactive probes. Besides, the PCR amplification can be carried out on the DNA extracted from dried blood samples. So the technique is very useful for gene diagnosis and carrier screening of genetic disease.
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PMID:[Detection of sickle cell gene by analysis of amplified DNA sequences]. 264 Jan 44

In the Mediterranean area, 50% of the beta thalassaemia mutations abolish or create a restriction endonuclease site in the beta globin gene. This study describes a new procedure for prenatal detection of these beta thalassaemia defects based on the direct visualisation, on an ethidium bromide stained polyacrylamide gel, of the discrete DNA fragments produced by restriction endonuclease digestion of fetal DNA, enzymatically amplified using the DNA polymerase from the thermophilus bacterium Thermus aquaticus. We applied this procedure to the Sardinian population to detect the nonsense mutation at codon 39 and the frameshift at codon 6 of the beta globin gene; these are the most frequent beta thalassaemia mutations in this population, accounting for 95% and 2.2% of the beta thalassaemia chromosomes. The main advantages of this procedure are simplicity (no radioactivity), sensitivity (0.2 microgram of DNA), and rapidity (12 hours). The very small amount of fetal material required makes amniotic fluid cell culture unnecessary and may decrease the fetal loss rate associated with trophoblast sampling. By circumventing the use of radioactive and non-radioactive probes, the spread of this technology to the high risk areas will be facilitated.
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PMID:Prenatal diagnosis of beta thalassaemia based on restriction endonuclease analysis of amplified fetal DNA. 273 98

Restriction endonuclease mapping analyses were made of DNA from a few members of a Macedonian family with hematological characteristics of delta beta-thalassemia, ie, microcytosis, normal HbA2 levels, and elevated levels of HbF (7% to 14%) with G gamma (average 40.5%) and A gamma T chains (average 59.5%). A large deletion of 18 to 23 kb was present with a 5' breakpoint within a 670-bp segment of DNA between the HpaI and NcoI restriction sites 5' to the delta globin gene, and a 3' breakpoint between the BamHI and HpaI restriction sites located some 9 to 13 kb 3' to the beta globin gene. This deletion is different from those present in other types of G gamma A gamma(delta beta)zero-thalassemia. The similarity of the hematological expression of these delta beta-thalassemic conditions which have somewhat comparable 5' breakpoints supports the idea that an important fetal hemoglobin-controlling region lies between the psi beta and delta globin genes.
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PMID:The 18- to 23-kb deletion of the Macedonian delta beta-thalassemia includes the entire delta and beta globin genes. 287 56

Two families, one of Anglo-Saxon-Dutch descent, and the other, West Indian black, have an atypical beta thalassemia characterized by an unusually high level of Hb A2 in the heterozygous state. Restriction endonuclease mapping showed a deletion of about 1.35 kilobase (kb) in the 5' region of the beta globin gene. Direct sequencing of a specific region of genomic DNA amplified by a new modification of the polymerase chain reaction defined the deletion to be 1,393 base pairs (bp) and to be the same in both families. The deletion extends from 485 bp 5' to the mRNA CAP site to the middle of the second intervening sequence. This deletion, together with three others previously described that remove the 5' end of the beta gene but leave the delta gene intact, are all associated with unusually high levels of Hb A2 in the heterozygous state.
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PMID:Molecular characterization of a high A2 beta thalassemia by direct sequencing of single strand enriched amplified genomic DNA. 292 Feb 14

Members of a Black family from Georgia who were investigated for the first time in 1960 and several times thereafter were reinvestigated through DNA restriction endonuclease analyses and haplotyping, while the gamma chain heterogeneity of the Hb F was reevaluated using a newly developed HPLC procedure. Four different abnormalities were present. (a) Heterozygosity for G gamma A gamma-HPFH type II characterized by a large deletion involving the delta and beta globin genes with a 5' end within the psi beta gene. (b) Heterozygosity for an -epsilon-G gamma-G gamma-psi beta-delta-beta S-chromosome, thus carrying a beta S globin gene and two G gamma genes instead of one G gamma and one A gamma gene. (c) Heterozygosity for an -epsilon-G gamma-A gamma T-psi beta-delta-beta S-chromosome, carrying the beta S globin gene and an allele of the A gamma (or A gamma I) gene. These three chromosomes occurred in combination with each other, resulting in SS and S-HPFH conditions, and with a normal -epsilon-G gamma-A gamma-psi beta-delta-beta A-chromosome resulting in the HPFH and Hb S heterozygosities. The presence of the -G gamma-G gamma- and -G gamma-A gamma T-chromosomes in the one SS patient was responsible for the high G gamma value (average 75%), 25% A gamma T chain, and for the absence of the A gamma I chain. (d) An alpha-thalassemia-2 heterozygosity in one member.
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PMID:Hemoglobin abnormalities in a black family with HB S, hereditary persistence of HB F, and a gamma chain variant; a reevaluation through gene mapping. 608 52


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