Hereditary recombined three-allele variant of the Gc system

A three-allele variant with Gc 2, Gc 1F and Gc 1A2 alleles was detected in both a baby and his mother during paternity testing by isoelectric focusing. His father had a normal Gc phenotype, Gc 2-1F. Further examination of his mother's relatives revealed that his grandfather also had the same three-allele variant, while his grandmother and his aunt had normal Gc 2-1F and Gc 2-2. From these results, it was considered that the Gc 1F and Gc 1A2 alleles were on the same single chromosome. It was suggested that recombination had occurred between two chromosomes that had the Gc 1F and Gc 1A2 allele, respectively, forming the variant allele Gc 1F1A2 on a single chromosome.     

Gc types in western Japan: report of a new variant Gc 1C35

Gc types were examined in a total of 1,000 unrelated Japanese individuals from Western Japan. By isoelectric focusing the six common subtypes and several rare types were observed. In addition, a new variant with a mobility between the Gc 1S and 1C2 was identified in 2 individuals. A family investigation confirmed the inheritance of the corresponding allele Gc* 1C35.     

A new hereditary variant of the PGM1 erythrocyte enzyme system determined by isoelectric focusing

Summary A new variant of the PGM _a ¹ erythrocyte enzyme system not identical with the known variants of the system has been detected in the hemolyzed red blood cells of a healthy blood donor by isoelectric focusing. Using this technique the variant is represented by two bands, a strong and slow one more cathodically located than the a3 band and a weak one in the position of the a2 band. Using agarose thinlayer or acetate foil electrophoresis the variant is represented only by a minimal cathodic broadening of the PGM₁ 1 band and therefore it is easily overlooked. Investigation of the propositus' family shows that the variant occurs combined with the common alleles PGM ₁ ^a1 , PGM ₁ ^a2 , and PGM ₁ ^a3 and that it has an autosomal dominant inheritance. Obviously the variant has a very low frequency.     

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.     

Variants of the group-specific component system as demonstrated by immunofixation electrophoresis. Report of a new variant, Gc Boston (Ge B).

Immunofixation electrophoresis is a relatively simple and reliable method for the genetic phenotyping of the group-specific component (Gc) of serum. This method permits direct comparison of electrophoretic mobilities and band concentrations, with no interference by other proteins. The variants Gc Ab and Gc Y appear identical by this technique; the Eskimo variant appears to be similar to Gc D but not to Gc Ab as previously reported. Gc Norway, also designated Gc 1C, is electrophoretically cathodal to the slower band of Gc 1 and therefore appears to be a distinct variant. A new variant, Gc Boston, is single banded with mobility between the two bands of Gc 1.     

A new opaque variant of maize by a single dominant RNA-interference-inducing transgene

In maize, alpha-zeins, the main protein components of seed stores, are major determinants of nutritional imbalance when maize is used as the sole food source. Mutations like opaque-2 (o2) are used in breeding varieties with improved nutritional quality. However, o2 works in a recessive fashion by affecting the expression of a subset of 22-kD alpha-zeins, as well as additional endosperm gene functions. Thus, we sought a dominant mutation that could suppress the storage protein genes without interrupting O2 synthesis. We found that maize transformed with RNA interference (RNAi) constructs derived from a 22-kD zein gene could produce a dominant opaque phenotype. This phenotype segregates in a normal Mendelian fashion and eliminates 22-kD zeins without affecting the accumulation of other zein proteins. A system for regulated transgene expression generating antisense RNA also reduced the expression of 22-kD zein genes, but failed to give an opaque phenotype. Therefore, it appears that small interfering RNAs not only may play an important regulatory role during plant development, but also are effective genetic tools for dissecting the function of gene families. Since the dominant phenotype is also correlated with increased lysine content, the new mutant illustrates an approach for creating more nutritious crop plants.     

“单基因遗传病”研究性学习探索

在单基因遗传病专题的教学中探索了研究性学习方式,通过提取关键词、列表比较、创新思考、总结提升、运用规律、感受遗传病等方式,达到了知识目标、能力目标、情感目标并重的目的。     

Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions

This report describes a new variant of hereditary macrothrombocytopenia combined with the presence of neutrophil inclusions that differ from those found in patients with May-Hegglin anomaly, the Chediak-Higashi syndrome or individuals with septicaemia and toxic D?hle bodies in polymorphonuclear leukocytes (PMN). The PMN inclusions in the family described in this report are similar to those found in patients with the Fechtner syndrome, a variant of Alport's syndrome. However, other features of Alport's syndrome, including high frequency deafness, congenital cataracts, and chronic interstitial nephritis are absent in the members of the family described here. We have named this anomaly the Sebastian platelet syndrome. The macrothrombocytopenia and neutrophil inclusions observed in this family can occur in the absence of other congenital anomalies and therefore represent a unique syndrome.     

A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy

We have analyzed mitochondrial DNA sequence in 15 Russian LHON patients and found the new mtDNA sequence variant in one family (2 patients) who showed 100% penetrance of the disease in men. This family has a T14484C primary mutation, and four secondary mutations (T4216C, G13708A, G15812A, G15257A), which belong to the European haplogroup J. The new sequence variant of A9016G in the ATPase 6 gene changed highly conserved amino acid of isoleucine to valine, has not been found in the rest of 13 LHON patients and controls. This novel sequence variant may contribute to the 100% penetration of LHON disorder in men of this family.     

A new rare variant of the glyoxalase I system of the red cell: GLO-Sicily

A fast variant of the red cell enzyme glyoxalase I was identified in a sample of 663 persons from Eastern Sicily; the allele was designated GLOSi. The gene frequencies for the common alleles GLO1 and GLO2 are not different from those observed in other southern Italian populations, and are in agreement with the hypothesis of a westward gene flow from Asia.     

A new electrophoretic variant of arylsulfatase A

Previous work in this laboratory has identified electrophoretic variant forms of arylsulfatase A in leucocyte plus platelets. During a study to replicate and extend these findings, a new seven-band variant of arylsulfatase A has been identified. Purified platelets gave a clearer, more distinct electrophoretic banding pattern than the leucocyte and platelet preparations.     

PEP A9, a new,unstable variant in the peptidase a system

Summary A rare peptidase A variant, tentatively designated PEP A⁹, was observed in six members of a German family, indicating autosomal codominant inheritance. The electrophoretic mobility is similar to that of PEP A 3-1, but it has very low in vivo stability. There is no apparent association with a disease state. A simple and sensitive staining reagent for PEP A was found in o-phthalaldehyde.