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:2.7.10.1 (ERK)
95,504 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Alpha-thalassemia of Southeast Asian deletion (-- SEA/) is very common in Southeast Asia. Homozygosity of this genotype is the major cause of Hb Bart's hydrops fetalis in Taiwan. With polymerase chain reaction using three oligonucleotide primers bridging the common deletion breakpoint, a DNA fragment of 194 basepairs (bp) was amplified in chromosomes with the -- SEA determinant and a DNA fragment of 287 bp was amplified in chromosomes without this deletion. In our pilot study including 8 normal subjects, 20 obligate carriers, and 11 homozygotes of the deletion, all the genotypes were determined and then confirmed by Southern blotting and DNA hybridization with phi zeta globin gene probe. For prenatal diagnosis, 55 at-risk pregnancies were collected. Chorionic villus sampling was done in 51 cases and early amniocentesis was done in 4 cases. Fourteen cases (25.5%) were diagnosed as normal, 25 (45.5%) as heterozygotes, and 16 (29%) as homozygotes of -- SEA. All of the diagnoses were also confirmed as aforementioned. With polymerase chain reaction, the determination of the -- SEA deletion is straightforward and is much quicker and easier than with conventional Southern blotting and DNA hybridization. In areas with a high prevalence of -- SEA deletion, this method provides a rapid tool for carrier detection and prenatal diagnosis.
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PMID:Carrier detection and prenatal diagnosis of alpha-thalassemia of Southeast Asian deletion by polymerase chain reaction. 173 25

alpha-Thalassemia hydrops fetalis is a common disorder in Taiwan. The condition causes perinatal death and many maternal obstetrical complications. In order to determine the molecular defects of this condition in Chinese, 87 unrelated families with this disorder were collected in the past 4 years. The molecular defects were studied by Southern blotting and DNA hybridization with phi zeta 1-globin gene and LO (a 0.4 kb BamHI/EcoRI fragment in the 5' flanking region of the zeta 2-globin gene) probes. Eighty-one (93.1%) fetuses had homozygous Southeast Asian deletion (- -SEA/- -SEA). Five (5.7%) fetuses were compound heterozygotes for the Southeast Asian deletion and Thailand deletion (- -SEA/- -THAI). The remaining fetus was a compound heterozygote for the Southeast Asian deletion and an uncharacterized nondeletional defect (- -SEA/(alpha alpha)Th). The molecular defects of alpha-thalassemia hydrops fetalis in Chinese are heterogeneous. This fact has important implications for genetic counseling and prenatal diagnosis.
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PMID:Molecular characterization of severe alpha-thalassemias causing hydrops fetalis in Taiwan. 186 84

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

The molecular basis of alpha(0) thalassemia were studied in 95 patients who attended at Srinagarind Hospital, Khon Kaen University during September 1993-January 1994. From these 95 patients, hemoglobin electrophoresis indicated that there were 14 cases with A2AH, 21 cases with A2ABart'sH, 6 cases with ConSpA2AH, 31 cases with ConSpA2ABart'sH, 6 cases with EABart's, 3 case with EFBart's, 4 cases with ConSpEABart's, 5 cases with Portland Bart's and 5 cases with A2A. White blood cell lysate was prepared from peripheral blood leukocytes of these patients and was subjected to the polymerase chain reactions for detection of the SEA type alpha thalassemia gene deletion. Altogether 100 chromosomes with the SEA deletion were detected from all patients examined, the result indicated that this type of alpha(0) thalassemia gene deletion is the most common among these Thai population. These data will be useful for a carrier screening and a prenatal diagnosis program of homozygous alpha (0) thalassemia which is a lethal condition in northeast of Thailand.
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PMID:Molecular basis of alpha (0)-thalassemia in northeast of Thailand. 862 16

alpha-Thalassemia is prevalent among Asian-Americans. Most cases involve deletions of one or more alpha-globin genes. Parents with two-gene cis deletions can have offspring with hemoglobin Bart's hydrops fetalis or hemoglobin H disease. The diversity of deletions poses special challenges to laboratories that offer DNA-based testing for alpha-thalassemia. The purpose of this study was to determine both the frequency of alpha-thalassemia genotypes in a predominantly Asian-American population (n = 78) and the mutation detection rate of a comprehensive Southern blot method. The ethnic composition of the study population was similar to the major Asian-American groups that reside in the United States as a whole. Three mutations (the Southeast Asian type, --SEA; -alpha3.7; and the Filipino type, --FIL) accounted for all mutant alleles present in the Asian-American patients tested for reproductive reasons. The relative frequencies of these three mutations were 62%, 27%, and 11%, respectively. The mutation detection rate was 100%. Laboratories that perform DNA-based alpha-thalassemia testing in populations similar to the one residing in Washington State should use a testing system that allows for the unequivocal identification of the haplotypes detected in the study population, namely --SEA, -alpha3.7, and --FIL.
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PMID:Frequency of deletional alpha-thalassemia genotypes in a predominantly Asian-American population. 912 71

Alpha-thalassemia has been estimated to account for over 60% of hydrops fetalis cases in Taiwan. The most common genotypic lesion found in alpha-thalassemia-1 cases in Taiwan is deletion of a large segment of the alpha-globin gene cluster, termed the Southeast Asian-type deletion (-SEA/; further referred to as SEA-type deletion). Seven chorionic villus samples (CVS) from pregnancies of couples both heterozygous for SEA-type deletion were studied. Non-radioactive Southern-blot hybridization using the dig-alkaline phosphatase detection system was developed to fulfill this purpose. The results were compared with corresponding polymerase chain reaction (PCR) data to elucidate the effectiveness of these two protocols in the diagnosis of the SEA-type deletion. The data showed that of the seven CVS, three demonstrated a distinctive band pattern, indicating their homozygous status of SEA-type deletion, whereas two showed heterozygous patterns, and the other two were free of the deletion. Homozygosity of the deletion was confirmed by Southern-blot hybridization performed on DNA samples extracted from the abortus tissue. However, two of the three cases with SEA-type deletion showed heterozygous PCR results. Maternal cell contamination could be responsible for the artifacts in the PCR results, but the influence due to the contamination is minimal in non-radioactive Southern-blot hybridization. We concluded that PCR is suitable for screening of carrier adults with SEA-type deletion, and non-radioactive Southern hybridization is ideal for early prenatal diagnosis of the SEA-type deletion.
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PMID:Non-radioactive Southern hybridization for early diagnosis of alpha-thalassemia with southeast Asian-type deletion in Taiwan. 1118 86

Hb H disease is generally associated with moderate to severe anemia but rarely requires regular blood transfusion. We recently studied two apparently unrelated patients with transfusion-dependent Hb H disease. Hemoglobin studies demonstrated Hb H and Hb Bart's without other detectable abnormal globin species. Extensive molecular analyses of the alpha globin genes and their regulatory sequence (HS-40) revealed that both patients are compound heterozygotes for alpha0 thalassemia (--(SEA)) and a novel point mutation, a thymidine insertion after codon 131 of the alpha1 gene. The resulting frameshift gives rise to a highly unstable alpha globin chain, which we refer to as "Hb Pak Num Po," containing an additional 34 amino acids. This unusual alpha1 globin variant clearly causes alpha thalassemia, but the unexpectedly severe phenotype suggests that this mutation may have additional effects on red cell physiology. A PCR-based (ARMS) assay was developed for rapid detection of this novel mutation, and this might be useful to study the prevalence of this novel mutation which poses potentially significant clinical consequences in populations of Southeast Asia. Detecting carriers of this mutation using the molecular diagnostic procedures described will provide the means to screen and prevent a potentially severe form of alpha thalassemia in Thailand.
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PMID:Co-inheritance of Hb Pak Num Po, a novel alpha1 gene mutation, and alpha0 thalassemia associated with transfusion-dependent Hb H disease. 1497 97

alpha-Thalassemia (thal) is one of the most common inherited disorders in the world and in Southern China. Three large deletions of the alpha-globin gene, namely the -alpha3.7 and -alpha4.2 (single gene deletions), and --SEA (Southeast Asian double gene deletion), are the main alpha-thal abnormalities in Southern China. We have developed a reliable, single-tube multiplex polymerase chain reaction (m-PCR) assay for these three most frequently observed determinants in Southern China. By using this assay, we detected 40 alpha-thal patients from Guangdong, Guangxi Province, and analyzed 116 blood samples from the Li ethnic group of Hainan Province. To our surprise, the combined incidence of -alpha3.7 and -alpha4.2 was found to be as high as 38.0% among the Li people, and the -alpha4.2 genotype is more frequent than -alpha3.7 in the Li people. No SEA deletions were found in the Li samples.
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PMID:Detection of three common, deletional alpha-thalassemia determinants in Southern China by a single-tube multiplex polymerase chain reaction method. 1500 63

To investigate the clinical application of multiplex PCR in detecting genotypes of deletional alpha-thalassemia in South China and observe the distribution frequency of alpha-globin gene deletion, 145 patients with silent carrier, alpha thalassemia trait or HbH were identified by M-PCR and 1.2% agarose gel electrophoresis. There are 1.3, 1.6, 1.8 and 2.0 kb bands which indicate --(SEA), -alpha(4.2), alphaalpha and -alpha(3.7), respectively. The results showed that among 145 patients, 100 patients with --(SEA)/alphaalpha (68.9%), 15 with -alpha(3.7)/alphaalpha (10.3%), 8 with -alpha(4.2)/alphaalpha (5.52%), 2 with -alpha(3.7)/-alpha(4.2) (1.38%), 1 with -alpha(3.7)/-alpha(3.7) (0.69%), 1 with -alpha(4.2)/-alpha(4.2) (0.69%), 14 with --(SEA)/-alpha(3.7) (9.65%), 2 with --(SEA)/-alpha(4.2) (1.38%) were found. Two patients prenatal diagnosed were confirmed with Bart's hydrops fetuses. In conclusion, M-PCR analysis is a simple, rapid and accurate method for detection of alpha-thalassemia gene deletion. This technique is helpful in screening, carrier identification and prenatal diagnosis of deletional alpha-thalassemia.
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PMID:[Multiplex PCR for detecting genotypes of deletional alpha-thalassemia]. 1536 34

A simple and an efficient oligonucleotide array was developed to identify common severe determinants of alpha (alpha) thalassemia. A total of 14 probes were designed to detect the most frequently three deletions (-alpha(3.7), -alpha(4.2), -(SEA)) and two non-deletions (alpha(Quong Sze), alpha(Constant Spring)). PCR products were amplified from human genomic DNA and allowed to hybridize with the oligonucleotide array. Hybridization was detected by fluorescence scanning, and alpha globin genotypes were assigned by quantitative analysis of the hybridization results. The efficiency and specificity of identifying alpha globin genotypes using the oligonucleotide arrays was evaluated by blinded analysis of 690 samples from unrelated individuals. The oligonucleotide array method described in this paper provides unambiguous detection of complex combinations of heterozygous, compound heterozygous and homozygous alpha thalassemia genotypes. The experimental results demonstrate that this methodological approach may be applied for screening and for hemological diagnosis in population at large.
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PMID:Oligonucleotide array for detection of common severe determinants of alpha thalassemia. 1560 20


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