geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Three novel and one C31133T (Arg-338-->Stop) mutations of antihemophilic factor IX gene detected in Taiwan


, : Three novel and one C31133T (Arg-338-->Stop) mutations of antihemophilic factor IX gene detected in Taiwan. Zhonghua Yi Xue Za Zhi 57(4): 241-246

Hemophilia-B is caused by mutation of the coagulation factor IX (F.IX) gene. The gene is about 34 kilobases in length and contains 8 exons ranging from 25 to 548 base pairs. There is no common mutation pattern of this gene in any population as there is in thalassemia. The hope is to localize the mutations in patients for use in making rapid familial surveys and for prenatal diagnoses. Diagnoses for a male patient with a newly-discovered mutation in Taiwan and three others with different novel mutations of F.IX gene were made from the results of prothrombin time (PT), activated partial thromboplastin time (APTT), assay of coagulation factors activity and factor IX antigen (F.IX:Ag) and also by assay of its inhibitor. The polymerase-chain-reaction (PCR)-based direct sequencing method was applied to evaluate all of the 8 exons and their flanking regions of F.IX gene for these patients. The four male patients are all severe hemophilia-B. In the three patients with novel mutation of F.IX gene, two have a very low F.IX:Ag of less than 1% and one has 73%, but no one has any inhibitor. One of the four mutations is A to C transversion at nucleotide (nt) 10458 resulting in tyrosine (69) to serine change in epidermal growth factor (EGF) type B domain. Although the F.IX:Ag is present, the F.IX activity (F.IX:C) is markedly deficit owing to the change of beta-hydroxylase recognition site. Another two have mutations at the splicing junctions. They are G to C transversion at nt 118, i.e. the first base of IVS-1 splicing donor, and G to T transversion at nt 17668, the last base of IVS-4 splicing recipient. These mutations may cause splicing failure and subsequently result in deficiency of both F.IX activity and antigen. The other mutation that has never previously presented in this country is a C to T transition (arginine-338 to stop) at nt 31133 that results in early termination of translation. The G to C mutation at nt 118 creates an Alu I restriction site and the C to T mutation at nt 31133 abolishes a Taq I site. Therefore, familial survey and rapid prenatal diagnosis for these patients by PCR-based direct sequencing method or by the restriction of enzyme cutting method pointing at the known mutation sites are certainly possible to achieve in our patients.

US$29.90

PMID: 8705874


Other references

Kocher, B., 1995: Defeat to violence. "Everybody is responsible to everyone about everything". Krankenpflege. Soins Infirmiers 88(8): 16-22

Berry, D., 2002: Does religious psychotherapy improve anxiety and depression in religious adults? A review of randomized controlled studies. Nurses in mental health settings are expected to provide insightful, wholistic, and effective care. Many patients in mental health settings have concerns or needs related to spiritual or religious dimensions. Unfortunately, many of these concerns...

Jacobson, J.W.; Ackerman, L.J., 1988: An appraisal of services for persons with mental retardation and psychiatric impairments. Mental Retardation 26(6): 377-380

Vaughan, G.; Xia, G.; Forbi, J.C.; Purdy, M.A.; Rossi, Lívia.Maria.Gonçalves.; Spradling, P.R.; Khudyakov, Y.E., 2014: Genetic relatedness among hepatitis A virus strains associated with food-borne outbreaks. The genetic characterization of hepatitis A virus (HAV) strains is commonly accomplished by sequencing subgenomic regions, such as the VP1/P2B junction. HAV genome is not extensively variable, thus presenting opportunity for sharing sequences of s...

Seipp, D., 1974: Alterations in pectins in apples during storage in normal and controlled atmospheres (CA). Cox's Orange Pippin, Golden Delicious, Jonathan and Roter Boskoop [Red Boskoop] were observed from harvest for six months during storage at 4 deg C in a normal atmosphere and in a controlled atmosphere (3% CO2; 3% O2; 94% N2). Storage in the...

Dunnett, S.B.; Iversen, S.D., 1982: Sensorimotor impairments following localized kainic acid and 6-hydroxydopamine lesions of the neostriatum. Rats received either control saline, 6-hydroxydopamine (6-OHDA) or kainic acid (KA) unilateral lesions of 5 different foci in the neostriatum. Both KA and 6-OHDA lesions in the mid-ventral focus resulted in a substantial and prolonged impairment i...

Alexe, G.; Fuku, N.; Bilal, E.; Ueno, H.; Nishigaki, Y.; Fujita, Y.; Ito, M.; Arai, Y.; Hirose, N.; Bhanot, G.; Tanaka, M., 2007: Enrichment of longevity phenotype in mtDNA haplogroups D4b2b, D4a, and D5 in the Japanese population. We report new results from the re-analysis of 672 complete mitochondrial (mtDNA) genomes of unrelated Japanese individuals stratified into seven equal sized groups by the phenotypes: diabetic patients, diabetic patients with severe angiopathy, hea...

Scott, P.R.; Sargison, N.D.; Penny, C.D.; Strachan, W.D., 1995: A questionnaire survey of the correction methods for vaginal prolapse in ewes. A questionnaire on methods of replacement and retention of pre-parturient vaginal prolapse, performed by the shepherd or veterinary surgeon, was completed by 108 veterinary undergraduate students after their farm experience as lambing assistants....

Catarzi, D.; Cecchi, L.; Colotta, V.; Filacchioni, G.; Martini, C.; Tacchi, P.; Lucacchini, A., 1995: Tricyclic heteroaromatic systems Synthesis and A-1 and A-2a adenosine binding activities of some 1-Aryl-1,4-dihydro-3-methyl benzopyrano pyrazol-4-ones, 1-Aryl-4,9-dihydro-3-methyl-1H-pyrazolo quinolin-4-ones, and 1-Aryl-1H-imidazo quinoxalines. The syntheses and A-1 and A-2a adenosine binding activities of some new 1-aryl-1,4-dihydro-3-methyl(1)benzopyrano(2,3-c)pyrazol-4-ones, 1-aryl-4,9-dihydro-3-methyl-1H-pyrazolo(3,4-b)quinolin-4-ones, and 1-aryl-1H-imidazo(4,5-b)quinoxalines are rep...

Roubal, FR.; Diggles, BK., 1993: The rate of development of Polylabroides multispinosus (Monogenea: Microcotylidae) parasitic on the gills of Acanthopagrus australis (Pisces: Sparidae). Experiments were done to determine the rate of development of Polylabroides multispinosus. Eggs hatch after an average 9, 7 and 6 days at 20, 24 and 28 degrees C, respectively. The ciliated oncomiracidium hatched with one pair of clamps (c.p.). Ju...