Frequency of Gc alleles and a variant Gc allele in Iceland

The gene frequency for Gc1 and Gc2 in an Icelandic population was found to be 0.71 and 0.29, respectively. An electrophoretic variant similar to Gc Norway was detected in 5 individuals of the same family. A pedigree of 14 family members, including two spouses, is presented.     

A new hereditary single band variant of the Gc system

Summary A new single band variant (Gc Ar) or the Gc subtypes not identical with the known Gc variants has been detected in the plasma of a healthy blood donor by isoelectric focusing. Using this technique the variant is represented by a single band which has a similar isoelectric point to the Gc 1C2 anodal band. It is well known that the single band Gc phenotypes remain unaltered after neuraminidase treatment. Nevertheless, the new single band variant (Gc Ar) is altered after neuraminidase treatment as is Gc 2A3. After neuraminidase treatment, the Gc Ar band is affected and moved to the nearby position of the Gc 2 band. Investigation of the proband's family shows that the variant occurs combined with the common alleles Gc 1F, Gc 1S and that it has an autosomal dominant inheritance.     

C4A7: a new variant of human complement C4

A rare variant of complement C4 was found in 2 related individuals. It has the most anodic mobility found to date, no hemolytic activity detected by the overlay technique and a Bgl II RFLP pattern very similar to that of the C4A6 type.     

Tyrosinosis: a new variant

Abnormalities of tyrosine metabolism are discussed under four headings: (1) accumulation of tyrosine and its metabolites secondary to severe liver damage, vitamin C deficiency, etc.; (2) transient neonatal tyrosinemia; (3) hereditary tyrosinosis with hepatorenal dysfunction where elevation of tyrosine and methionine levels in the plasma may be a secondary manifestation of an unknown disease process; and (4) “essential tyrosinemia” or tyrosinosis without hepatorenal dysfunction which may represent a kkrimary fault in the metabolism of tyrosine.A new case of tyrosinosis without hepatorenal dysfunction in a 13-year-old mentally retarded girl is reported. Clinical findings, laboratory investigations and results of dietary management and normalization of the plasma tyrosine level and of urinary metabolites are presented and compared with the features of three similar cases in the liteature. It is suggested that these cases represent “essential tyrosinemia” where there is a primary genetic defect in tyrosine metabolism.     

PI Scologne: a new variant in the alpha-1-antitrypsin system

Summary The detection of PI Scologne, a rare variant in the alpha-1-antitrypsin system, by means of isoelectric focusing is described.     

Alpha 1 antitrypsin M1: a new common genetically determined variant.

A new common variant (M1) of alpha 1 antitrypsin was detected by isoelectric focusing of serum in a pH gradient of 3.5-5.0 in polyacrylamide gels. The variant can be clearly distinguished from the common M type only when alpha 1 antitrypsin M is present in the same serum. It cannot be recognized on starch gel electrophoresis. The gene frequency in a population sample of United States whites was .09.     

Unusual sialilation of three different rare genetic variants of serum DBP: Gc 1A17, Gc 1A16, and Gc 1A11

Summary The proteins of three anodal Gc1 variants, Gc 1A16, 1A11, and 1A17, are characterized by the most acidic isoelectric points observed so far among the different Gc mutants. Stepwise removal of N-acetylneuraminic acid (NANA) by treatment with neuraminidase was performed to estimate the degree of sialilation of these Gc variants. The results indicate that both proteins, the anodal and the cathodal component of these Gc 1 mutants, carry sialic acid residues. This observation is remarkable in so far as usually only the anodal component of the Gc 1 protein contains NANA and only a single residue. From the experiments carried out it can be deduced that Gc 1A16 has two NANA residues in the anodal and one NANA residue in the cathodal component. Gc 1A16 was found in four members of three generations in a Danish family; the variant segregated as a Mendelian trait. More difficult to interprete are the results obtained with the variants Gc 1A11 and Gc 1A17. Gc 1A11 probably has three NANA residues in the anodal and two NANA residues in the cathodal component. Gc 1A11 has been observed in two mother-child pairs and is presumably also a simple genetic trait. Gc 1A17 has also several NANA residues in both Gc proteins; it is suggested that the anodal component has either three or four NANA residues and the cathodal component either two or three NANA residues. Family information on this variant is not yet available.     

There are two major types of hepatitis C virus in Japan

The polymerase chain reaction (PCR) was used to detect hepatitis C virus (HCV) in plasma from chronic non-A, non-B hepatitis patients. By choice of adequate primers, 19 of 24 samples (79%) were found positive. Sequence analysis of amplified 400 bp cDNA fragments encoding a portion of NS5 gene suggested that HCV can be classified into two types (named K1 and K2) in Japan. Slot blot hybridization of the fragments indicated that 13 were HCV-K1 and 6 were HCV-K2, which show 80% and 67% nucleotide sequence homology, respectively, with that of the prototype.     

Population study of apolipoprotein A-IV polymorphism and report of a new variant in Japanese

Genetic variants of human apolipoprotein A-IV (ApoA-IV) were investigated in 614 healthy Japanese individuals. The allele frequencies were estimated as ApoA-IV*1 = 0.9984 and ApoA-IV*2 = 0.0016. In addition, a new variant ApoA-IV*Tokyo was observed in a paternity material.     

Cholinesterase Newfoundland: a new succinylcholine-sensitive variant of cholinesterase at locus 1.

A family from Newfoundland was found to have a new rare variant for plasma cholinesterase (E.C.3.1.1.8) recognized by a high-percentage inhibition by dibucaine (DN), particularly when succinyldithiocholine was used as substrate (DNSDTC) but also somewhat high when benzoylcholine was substrate (DNBZCH). The family data demonstrated that the variant is determined by an allele of the usual and atypical alleles at locus 1, and the new allele is designated CHE1*NFLD. The proband who was heterozygous for the Newfoundland and atypical alleles had shown sensitivity to succinylcholine. It is postulated that cholinesterase Newfoundland (NFLD) has a reduced affinity for succinylcholine. Samples selected for high DNs with a benzoylcholine from 200 Canadian Caucasians and 70 Newfoundlanders did not have the variant, and, therefore, it is assumed that the remainder of the samples did not have the variant.     

Ceramide-1-phosphate sugars: new types of glycophospholipids

Ceramide-1-phosphate sugars were synthesized by direct glycosyl phosphite/phosphate andO-glycosyl trichloroacetimidate/phosphate exchange reactions, respectively. Thus, ceramide-1-O-phosphoric acid 5 gave with sialyl phosphite1 as sialyl donor directly -linked sialyl phosphate6; deprotection afforded the corresponding glycophospholipid ceramide-1-phosphateN-acetylneuraminate7. Similarly, fromO-glucosyl- andO-galactosyltrichloroacetimidate10 and13 with phosphoric acid derivative5 glycosyl ceramide-1-phosphate sugars12 and15, respectively, were obtained.     

Association of short-term memory with a variant within DYX1C1 in developmental dyslexia

A substantial genetic contribution in the etiology of developmental dyslexia (DD) has been well documented with independent groups reporting a susceptibility locus on chromosome 15q. After the identification of the DYX1C1 gene as a potential candidate for DD, several independent association studies reported controversial results. We performed a family-based association study to determine whether the DYX1C1 single nucleotide polymorphisms (SNPs) that have been associated with DD before, that is SNPs '-3GA' and '1249GT', influence a broader phenotypic definition of DD. A significant linkage disequilibrium was observed with 'Single Letter Backward Span' (SLBS) in both single-marker and haplotype analyses. These results provide further support to the association between DD and DYX1C1 and it suggests that the linkage disequilibrium with DYX1C1 is more saliently explained in Italian dyslexics by short-term memory, as measured by 'SLBS', than by the categorical diagnosis of DD or other related phenotypes.     

Seasonal occurrence and distribution of myxomycetes on different types of leaf litter in a warm temperate forest of western Japan

The seasonal occurrence and distribution of myxomycetes on different types of newly defoliated leaf litter were examined in a secondary forest in a warm temperate region of western Japan. The two types of leaf litter (deciduous trees, Prunus verecunda and Quercus variabilis, and evergreen trees, Q. glauca and Cinnamomum camphora) were incubated in trays on the forest floor. A total of 45 myxomycete species were recorded from 3021 collected samples that occurred at the July peak during the warmest and humidest season from April to November. The occurrence of species was significantly related to the changes in mean temperature and minimum temperature on both leaf types under humid conditions. Myxomycete assemblages were divided into three seasonal phases. Most of the species occurred in June–September, while a few species demonstrated characteristic distributions; i.e., Didymium melanospermum appeared in April– May and Diderma umbilicatum appeared in October– November. The respective leaf types supported the reproduction of myxomycetes with high species richness and diversity, with 34 species and H’ = 2.59 on deciduous trees and similarly 30 species and H’ = 2.49 on evergreen trees. Several species, however, exhibited a preference for either the deciduous tree or evergreen tree leaves. Thus, a mixed forest that defoliates during different two seasons yields a greater species diversity of myxomycete assemblage.     

Polymorphism rs7214723 in CAMKK1: a new genetic variant associated with cardiovascular diseases

Cardiovascular diseases (CVDs) are the leading cause of deaths worldwide. CVDs have a complex etiology due to the several factors underlying its development including environment, lifestyle, and genetics. Given the role of calcium signal transduction in several CVDs, we investigated via PCR-restriction fragment length polymorphism (RFLP) the single nucleotide polymorphism (SNP) rs7214723 within the calcium/calmodulin-dependent kinase kinase 1 (CAMKK1) gene coding for the Ca²⁺/calmodulin-dependent protein kinase kinase I. The variant rs7214723 causes E375G substitution within the kinase domain of CAMKK1. A cross-sectional study was conducted on 300 cardiac patients. RFLP-PCR technique was applied, and statistical analysis was performed to evaluate genotypic and allelic frequencies and to identify an association between SNP and risk of developing specific CVD. Genotype and allele frequencies for rs7214723 were statistically different between cardiopathic and several European reference populations. A logistic regression analysis adjusted for gender, age, diabetes, hypertension, BMI and previous history of malignancy was applied on cardiopathic genotypic data and no association was found between rs7214723 polymorphism and risk of developing specific coronary artery disease (CAD) and aortic stenosis (AS). These results suggest the potential role of rs7214723 in CVD susceptibility as a possible genetic biomarker.