Portal-Splenic-Mesenteric Venous Thrombosis in a Patients with Protein S Deficiency due to Novel PROS1 Gene Mutation / 대한소화기학회지

Protein S (PS), a vitamin K-dependent glycoprotein, performs an important role in the anticoagulation cascade as a cofactor of protein C. Because of the presence of a pseudogene and two different forms of PS in the plasma, protein S deficiency (PSD) is one of the most difficult thrombophilias to study and a rare blood disorder associated with an increased risk of thrombosis. We describe a unusual case of previously healthy 37-year-old man diagnosed with portal-splenic-mesenteric vein thrombosis secondary to PSD. The patient was admitted to the hospital due to continuous nonspecific abdominal pain and nausea. Abdominal computed tomography revealed acute venous thrombosis from inferior mesenteric vein to left portal vein via splenic vein, and laboratory test revealed decreased PS antigen level and PS functional activity. Conventional polymerase chain reaction and direct DNA sequencing analysis of the PROS1 gene demonstrated duplication of the 166th base in exon 2 resulting in frame-shift mutation (p.Arg56Lysfs*10) which is the first description of the new PROS1 gene mutation to our knowledge. Results from other studies suggest that the inherited PSD due to a PROS1 gene mutation may cause venous thrombosis in a healthy young man without any known predisposing factor.

Activated Protein C Anticoagulant System Dysfunction and Thrombophilia in Asia

Thrombophilia that is common among Caucasians is caused by genetic polymorphisms of coagulation factor V Leiden (R506Q) and prothrombin G20210A. Unlike that in Caucasians, thrombophilia that is common in the Japanese and Chinese involve dysfunction of the activated protein C (APC) anticoagulant system caused by abnormal protein S and protein C molecules. Approximately 50% of Japanese and Chinese individuals who develop venous thrombosis have reduced activities of protein S. The abnormal sites causing the protein S molecule abnormalities are distributed throughout the protein S gene, PROS1. One of the most common abnormalities is protein S Tokushima (K155E), which accounts for about 30% of the protein S molecule abnormalities in the Japanese. Whether APC dysfunction occurs in other Asian countries is an important aspect of mapping thrombophilia among Asians. International surveys using an accurate assay system are needed to determine this.

Síndrome de McLeod: compromiso multisistémico asociado a neuroacantocitosis ligada al cromosoma X, en una familia chilena / McLeod syndrome: Multisystem involvement associated with neuroacanthocytosis linked to X chromosome. Report of two related cases

Neurological abnormalities associated with spiculated, "acanthocytic" red cells in blood have been described as neuroacanthocytosis. This is a heterogeneous group of conditions that can be clearly subdivided on the basis of recent genetic findings. The McLeod Syndrome, one of the core neuroacanthocytosis syndromes, is a rare X-linked disorder caused by mutations of the XK gene, an X-chromosomal gene of unknown function characterized by haemopoietic abnormalities and late-onset neurological and muscular defects. We report two Chilean brothers with the McLeod phenotype who showed important psychiatric features. The diagnosis may be elusive if the presence of acanthocytosis is not properly studied. We describe a method which allowed the diagnosis that unmasked acanthocytosis. Otherwise the condition could have remained undiagnosed as it had been for decades in this family. This syndrome must be considered when assessing a familial movement disorder, specially affecting males with relevant psychiatric features. A reliable test for acanthocytosis assessment is available.

Greater genetic variability in Argentine Creole than in Thoroughbred horses based onserum protein polymorphisms

Genetic polymorphism was analyzed for five blood proteins: albumin - Al, esterase - Es, a1B-glycoprotein - Xk, transferrin - Tf and hemoglobin - Hb in 200 Thoroughbred (TB) and 124 Argentine Creole (AC) horses. Of the five systems examined, Tf and Hb were not in Hardy-Weinberg equilibrium in either breed and Es was not in equilibrium in the Creole breed. Genetic variability, estimated as average heterozygosity, was higher in AC (H = 0.585 ± 0.131) than in TB (H = 0.353 ± 0.065). The genetic differentiation between these two populations (FST) was 0.109. Thus, of the total genetic differences between breeds, the proportion of genetic variation attributable to breed differences was about 10%; the remaining 90% was due to individual variation within breeds. The high degree of genetic variability seen in Argentine Creole horses could be a consequence of natural selection. Selection of TB through the centuries has most likely modified the gene pool of the ancestral population, with a consequent reduction in variability at certain loci. Probably, different mechanisms exist for maintaining polymorphism at these loci in TB and in AC horses. Heterozygosity may have played a fundamental role in adaptation.

Genetic Polymorphism of the Serum Proteins of Horses in Jeju

The study was carried out to investigate the genetic polymorphism of the serum proteins of horses in Cheju. They were assigned to three groups; 45 Cheju native horses(CNH), 60 Cheju racing horses(CRH) and 60 Thoroughbreds(TB). We analyzed the phenotypes and gene frequencies of serum proteins which were albumin (Alb), vitamin-D binding protein(GC), esterase (ES), A1B glycoprotein(A1B) and transferrin(TF) loci using horizontal polyacrylamide gel electrophoresis (HPAGE).All of the loci, except A1B in TB, showed polymorphisms and different allelic and phenotypic frequencies in all three groups. ESS and TFF1 were not observed in CNH. Allelic frequencies of AlbB, ESI, TFD and TFF1 were high in TB. All of the loci, except ES locus in CRH, appeared to be in a state of Hardy-Weinberg equilibrium from goodness-of-fit test in all three groups Heterozygosity estimates at Alb, ES and TF loci were high, but GC and A1B loci were low in all three groups. Average heterozygosities in CNH, CRH and TB were 0.3535, 0.3555 and 0.2726, respectively. Results showed differences in the frequencies of alleles and phenotypes of several serum protein loci between CNH and CRH, suggested that CRH might be crossed with other breeds of horses in some degree.

Immunogenetic correlation between blood protein polymorphism and treatment with PMSG and PGf[2alpha] in Buffaloes

23 buffalos [Bubalus bubalis] were treated with 2000 IU PMSG, followed by 25 mg PGF-2 alpha for induction of superovulation. Biochemical polymorphism analysis was done by using SDS polyacrylamide gel electrophoresis for determination of 4 blood protein systems, albumin [Al], polymorphism [Pa], transferrin [Tf] and post-transferrin [Pt]. From the results obtained it was concluded that there are a positive correlation between plasma progesterone levels and AlA allele and also, between estrous phase and PaA allele frequencies. Determination of these alleles can be used as a tool for predilection of the phase of estrus

Serum protein polymorphisms and malaria in Madya Pradesh, India.

The relationship of serum protein polymorphisms to the presence of malaria antibodies was studied in 473 muria gond tribal subjects from Bastar district, Central India, an area endemic for both P. falciparum and P. vivax infection. A control group of 100 subjects in Delhi, which has a low prevalence of malaria, was also studied. Serum proteins (transferrin, haptoglobin and albumin) were analyzed for polymorphic variants by starch gel electrophoresis. Malarial antibodies were assayed by enzyme linked immunosorbent assay (ELISA), while thin blood films were screened for the presence of malaria parasites. Among serum proteins transferrin CD variant showed significant correlation with malarial infection. There were no significant differences observed between Hp1 and Hp2 variants of haptoglobin in relation to presence of malarial antibodies. Statistical analysis for albumin variants was not attempted because the number of individuals showing abnormal bands was small.

Una hipótesis evolutiva sobre la ausencia del antígeno Diego (Di-a) en Amerindios Chibchas / An evolutionary hypothesis on the absence of the Diego antigen (Di-a) in Chibchas Amerindians

Se estudiaron 141, tribus amerindias de todo el continente y esquimales de Alaska y Canadá en relación con el grupo sanguíneo Diego. Se encontró que 26 (18%) no presentaron el antígeno Di-a y de estas 20 (77%) pertencían al Phylum lingüístico chibcha. En el pasado se ha explicado la ausencia de Di-a en un contexto e ecológico al relacionar este fenómeno con el clima y con la presencia de clinas según la latitud. Aquí se presenta una explicación alternativa, por la pérdida del alelo Di-a en el proceso de divergencia de los grupos chibchas, ocurrida hace 6000-7000 años, por procesos aleatorios y no por selección natural. Se postula que la ausencia de Di-a está circunscrita a este grupo amerindio y que su presencia en cuatro tribus (Boruca, Ica, Kuna y Sumo) se atribuye al efecto de flujo génico relativamente reciente con tribus vecinas de diferente lenguaje y portadores del antígeno

Grupos sanguíneos ABO y Rh y proteínas séricas en una población amerindia, Matambú, Costa Rica / ABO and Rh blood groups and serum proteins in an Amerindian population, Matambú, Costa Rica

Se llevó a cabo un estudio de la estructura genética de la población de Matambú, Costa Rica, utilizando marcadores genéticos de 6 loci que incluyen los grupos sanguíneos ABO y Rh y la albúmina, ceruloplasmina, haptoglobina y transferrina del suero. Todos los individuos fueron Rh+ y el alelo I§ tuvo una frecuencia alta (0,89). Existen 4 alelos polimórficos de la ceruloplasmina incluyendo una posible variante nueva (3,8%). La transferrina Dchi tiene una frecuencia notablemente alta (0,11). Estos resultados indican que este grupo tiene un indudable ancestro amerindio aunque están presentes en la población genes de origen caucasoide y negroide. La constitución genética de esta población difiere de la de otros grupos amerindios de Costa Rica como el Guaymí, de lengua Chibcha, lo que apoya la hipótesis de un origen mesoamericano de este grupo