中国彝族、藏族和满族中ABO、MNSs、Lewis血型系统和ABH分泌型的分布

对彝族(210人),藏族(199人)和满族(210人)的ABO、MNSs、Lewis血型系统和ABH物质分泌能力进行了调查,结果表明,彝族有较高的P基因频率(0.2089)和m基因频率(0.6976);藏族有较高的r基因频率(0.6290)和较低的P基因频率(0.1165);满族有较高的q基因频率(0.2774)和较低的m基因频率(0.5929);S基因频率在三个民族中都很低(<0.1)。彝族和满族中Se基因频率分别为0.4824和0.4457;藏族中Le~a基因频率(0.4653)高于满族的Le_a基因频率(0.3696)。对满族的ABO、Lewis血型和唾液中ABH物质分泌能力的关系进行分析,看出它们之间有一定联系。     

云南阿昌族的红细胞血型分布

调查了１０２名云南阿昌族的ＡＢＯ,ＮＮＳｓ,Ｒｈ和Ｐ系统的红细胞血型,结果表明,阿昌族的基因频率ｐ（０．３８７４）是迄今国内调查过人群中的最高值,Ｅ（０．２４５９）和ＣＤｅ（０．６９３６）基因或染色体频率较高,而Ｓ（０．０６８６）和Ｐ１（０．１０８９）频率较低;Ｍｓ（０．５９５０）连锁率高于Ｎｓ（０．３３５３）;未发现ＳＳ和Ｒｈ（－Ｄ）阴性表现型。     

MNSs system, erythrocyte membrane and false paternity exclusion

The modification of the red cell membrane first observed by Darnborough and co-workers in En (a-) and EnaEn heterozygous persons, and characterized by a) exaggerated agglutinability of the cells by various serological reagents, b) decrease of their electric surface charge, and c) reduction of their sialic acid content, is shown to be regularly and, to all appearances, directly associated with weakness or absence of MN antigenic substance; it is not seen in comparable "variants" of the Ss antigens. This type of modified cell membrane is thus found in the presence of Mg, of weak forms of M or N (N2 with or without a positive direct antiglobulin test, or as produced by the gene complexes MS.Sta, Ms.Sta, MsMi.V or NsMi.V) and when antigen production at the MN locus is inhibited, completely or almost completely, by the "operator" genes En or Mk. Apparent exclusions of parentage due to some of the genes involved, particularly Mg, En and Mk, are presented. On the other hand, the NNSs genotypes of members of the 3 known families with an En(a-) propositus are discussed and a revised interpretation of them is given, based on renewed serological studies of the persons concerned. A genetical scheme of the MNSs system, comprising four "structural" loci-Ena MN, U Ss-and three "operators", is proposed.     

Structural properties of the human MN blood group antigen receptor sites.

It is shown that the MN blood group antigen determinant of the major human erythrocyte membrane (MN) sialoglycoprotein is located on its N-terminal octaglycopeptide. The only analytically detectable difference between peptides from MM and NN cells are Ser/Leu and Gly/Glu polymorphisms at the first and fifth positions, respectively. Destruction of the antigens by removal of the N-terminal residues suggests that these amino acids represent a part of the receptor areas for various anti-M or -N reagents. Evidence is presented that the N-terminal structure of the Ss glycoprotein is identical with that of MN glycoprotein from NN red cells up to the fifth residue. This provides an explanation for the 'N' antigen on this molecule and direct support for the earlier proposal that the MNSs locus is represented by homologous genes.     

Studies on Miltenberger class III, V, Mv and Mk red cells. I. Sodium-dodecylsulfate polyacrylamide gel electrophoretic investigations

The glycoproteins in erythrocyte membrane from individuals exhibiting the rare alleles at the MNSs blood group locus Miltenberger (Mi-) III, V, Mv and Mk were studied by sodium-dodecylsulfate polyacrylamide gel electrophoretic techniques. The results suggest that the genes Mi-III and -V give rise to the formation of Ss sialoglycoproteins whose electrophoretic mobilities are altered. The Mi-V alteration is additionally associated with a decreased MN glycoprotein content. The allele Mv leads to a decreased Ss glycoprotein content. Data on ordinary Mk and Mk/Mi-III red cells suggest that the gene complex Mk does not give rise to the synthesis of Ss glycoprotein.     

Analysis for possible linkage between the loci for the Waardenburg syndrome and various blood groups and serological traits

Summary Linkage was sought between the Waardenburg syndrome locus and the loci for various genetic markers segregating in a single family. Close linkage was shown to be unlikely with the loci for Rh, MN, Ag, ADA, HL-A, and Gm. Evidence obtained is consistent with the possibility of linkage with the locus for the AB0 blood group, but study of additional families will be required to provide a definite answer.

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Zusammenfassung In einer Familie wurde nach Genkopplung zwischen dem locus für das Waardenburg-Syndrom und verschiedenen genetischen Markern gefahndet. Für die loci für Rh, MN, Ag, ADA, HL-A und Gm wurde enge Kopplung als unwahrscheinlich erwiesen. Dagegen lassen die Daten die Annahme einer Kopplung mit dem AB0-locus zu. Für eine endgültige Entscheidung müßten zusätzliche Familien untersucht werden.

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Research supported by grants No. HD 04134, HL 09011, and HL 08630 from the National Institutes of Health.     

Familial clustering of IGHC deletions and duplications: functional and molecular analysis

The human immunoglobulin heavy chain constant region locus (IGHC) comprises nine genes and two pseudogenes clustered in a 350 kilobase (kb) region on chromosome 14q32. Several IGHC haplotypes with single or multiple gene deletions and duplications have been characterized. The most likely mechanism accounting for these unusual haplotypes is the unequal crossing-over between homologous regions within the locus. Here we report the analysis of an unusual case of familial clustering of deletions/duplications. In the two branches of the BON family, three duplicated and two deleted haplotypes, all probably independent in origin, have been characterized. The structure of the haplotypes, one of which is described here for the first time, supports the hypothesis of homologous unequal crossing-over as the origin of recombinant haplotypes. The analysis of serological markers in a subject carrying one deleted and one duplicated haplotype allowed us the first direct inferences concerning the functions of the duplicated IGHC haplotypes.     

福建汉族8个红细胞血型系统的分布

对福建汉族人群红细胞血型系统的19个抗原进行了调查。各系统的调查人数与基因频率为:ABO:216人,p=0.1936、q=0.1766,r=0.6298;Lewis:214人,Le(a+)17人,表现型频率=7.94％;P:215人,n=0.1427;Diego:215人,Di(?)=0.2830;MNSs:用抗M、抗N血清调查了324人,对其中150人又用S和s抗血清进行了调查,m=0.5695、n=0.4305、单倍型频率MS=0.0200、NS=0.0139,Ms=0.5500、Ns=0.4161;Dhffy:214人,发现Fy(a-)3例;Fy(?)=0.8817;Kidd:215人,未发现JK(a-b=)型,JK(?)=0.4767;Rh:214人,发现1例CCdee型,d=0.0686,单倍型频率r(?)=0.0686、R~1=0.6352、R~2=0.1970、R~0=0.0605、R~2=0.0388。     

Ein neues Interferenzmodell zur Aufstellung von Tetraden-Kartierungsfunktionen

Summary In order to construct chromosome maps from tetrad data a new mapping function has been devised from a model of interfence characterized by an exactly defined factor of interferencei. In tetrads of a rank greater zero this factor indicates the value of inhibition of the next crossing-over. These mapping functions are of some advantage, biological as mathermatical, compared with similar functions given byBarrett et al. (1954). The mapping functions enable to evaluate interference in a two-point test cross.

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Mit 3 Textabbildungen

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Mit Mitteln der Deutschen Forschungsgemeinschaft.     

The generation of new S alleles at the incompatibility locus of Lycopersicum peruvianum Mill

Summary A detailed analysis has been made of S genotypes in progenies derived from induced and spontaneous inbreeding processes in a clonal population of Lycopersicum peruvianum Mill. The results indicate that, in certain genetic backgrounds, induced inbreeding leads to the generation of a new S allele which usually first appears in the pistil of individuals otherwise homozygous for one of the parental specificities. When the change in specificity occurs in S heterozygotes, spontaneous self-compatibility is promoted and the new allele can be transmitted, via selfing, to the following generation.The factors and mechanisms which may be involved in the generation of new specificities at the S locus of higher plants are discussed and preliminary evidence is provided which suggests that the hypothesis of mutation by equal crossing-over is not applicable to the present study.

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Zusammenfassung Es wurde eine ausführliche Analyse der S-Genotypen in Nachkommenschaften einer geklonten Population von Lycopersicon peruvianum Mill, nach induzierter und spontaner Inzucht gemacht.Die Ergebnisse deuten an, da induzierte Inzucht bei einem bestimmten genotypischen Milieu zum Entstehen eines neuen S-Allels führt. Dieses erscheint gewöhnlich zuerst in den Griffeln einzelner Individuen, die im übrigen für eines der elterlichen Allele homozygot sind. Wenn die Änderung in S-Heterozygoten auftritt, dann wird die spontane Selbstkompatibilität gefördert. Das neue Allel kann durch Selbstung in die nächste Generation übertragen werden.Die Faktoren und Mechanismen, die am Entstehen neuer Allele am S-Locus höherer Pflanzen beteiligt Scin können, werden diskutiert. Ein vorläufiger Hinweis wird dafür erbracht, da die Hypothese der Mutation durch equal crossing-over für die vorliegende Untersuchung nicht zutrifft.

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This publication is contribution no. 644 of the EURATOM Biology Division.     

Analyse der Koppelung zwischen dem HL-A-System und anderen Loci

Zusammenfassung Die Koppelung der HL-A-Gene mit den Loci ABO, Rh, MNSs, P, Fy, Jk, K, SEP, PGM ₁, AK, ADA, GPT, Hp, Gm, Inv, Gc, Pt und Se wurde mit Hilfe der Lod-score-Methode untersucht. Es wurde dabei kein Hinweis für eine enge Koppelung zwischen den HL-A-Loci und den anderen Genorten gefunden.

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Analysis of the linkage between the HL-A loci and the genes of other markers

Summary The linkage of the HL-A genes with the loci ABO, Rh, MNSs, P. Fy, Jk, K, acP, PGM ₁, AK, ADA, GPT, Hp, Gm, Inv, Gc, Pt and ABH secretion was analyses using the lod-score method. There was no evidence for a close linkage between the HL-A loci and the genes of the other markers.

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National Blood Group Reference Laboratory (WHO), National Tissue Typing Reference Laboratory (Council of Europe)     

客家人的红细胞血型分布

对父母双方上溯三代均为客家人的广东梅县200名 (其中男89人,女111人) 健康学生进行了红细胞血型ABO,MNSs,Rh,Kidd,Duffy,Diego,Xg,Lewis及P等系统的分布调查。结果显示,客家人的基因频率S=0.0250,NS=0,pl=0.0917和Fyb=0.0300,都是汉族人群中最低的。其它基因频率为r=0.6632,p=0.1863,q=0.1505;m=0.5250,n=0.4750,MS=0.0250,Ms=0.5000,Ns=0.4750,s=0.9750;C=0.6575,D=1.0000,E=0.1515,CDe=0.6226,cDE=0.1200,cDe=0.2189,CDE=0.0389;JKa=0.4642,JKb=0.4881,JK=0.0477;Fya=0.9700;Dia=0.0202,Dib=0.9798;Xga=0.3633,Xg=0.6367;P2=0.9083。发现了国内第二例Jk(a-b-)表型,未发现MNS型,NS型,NSs型,CCDEE型,CcDEE型,Fy(a-)型和Rho(-)型。Le(a+b-)型29人,Le(a+b+)型2人,Le(a-b+)型67人,Le(a-b-)型102人。客家人与国内19个群体的遗传距离计算结果表明,与客家人遗传距离最近的是福建汉族、湖南苗族、贵州汉族及广西侗族,其次为河南汉族、黑龙江汉族、陕西汉族,福建畲族及上海汉族,而与云南白族、辽宁满族、甘肃汉族、广西瑶族、广西壮族、内蒙汉族及四川彝族的遗传距离较远。与客家人遗传距离最远的是湖南土家族、海南苗族及海南黎族。     

云南“本人”的红细胞血型分布及其与契丹人血缘关系的探讨

调查了云南省施甸县木老元乡哈寨村１０４名“本人”的４个细胞血型系统分布。结果表明,“本人”的ＡＢＯ血型系统分布特点是,基因频率ｐ（０．３０６９）〉基因频率ｑ（０．１７３９）;在ＭＮＳｓ血型系统中,基因频率ｍ（０．６５３８）〉基因频率ｎ（０．３４６２）;在Ｐ血型系统中,基因频率Ｐ１（０．１７９８）较低。这些均与我国南方少数民族的分布特点基本相符。与我国大部分地区一样。Ｒｈ因型系统的单倍型频率中最高的     

Problematischer Mutter-Kind-Ausschluß mit PGM1

Summary An apparently false exclusion of maternity (PGM₁1 versus PGM₁2) indicates the possibility of an additional allele of the PGM₁ locus, which cannot be detected by the usual electrophoretic methods.

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Direktor: Prof. Dr. G. G. Wendt

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Direktor: Prof. Dr. Dr. H. Ritter

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Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

A genetic analysis of linkage group I of Chlamydomonas reinhardi

Summary Crossing over in linkage group I ofChlamydomonas reinhardi was studied by means of the analysis of 1721 unordered tetrads. The data indicate that chiasma interference is positive, that chromatid interference is absent and that crossing over occurs at the 4-strand stage.

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Zusammenfassung Mit Hilfe der Analyse von 1721 ungeordneten Tetraden wurde das crossing-over in der Koppelungsgruppe I vonChlamydomonas reinhardi untersucht. Aus der Häufigkeit der verschiedenen Tetraden-Typen wird geschlossen, daß crossingover im Vierstrang-Stadium geschieht, und daß eine positive Chiasma-Interferenz existiert, während eine Chromatiden-Interferenz nicht vorkommt.

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With 2 Figures in the Text

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This work was supported by the United States Public Health Service (Grant No. E 1421) and the National Science Foundation (Grant No. G 2812).

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A portion of this work was conducted while a Public Health Service Research Fellow of the National Cancer Institute.     

Metabolic response of yellow mealworm larvae to two alternative rearing substrates

Introduction

Bitter melon (Momordica charantia, Cucurbitaceae) is a popular edible medicinal plant, which has been used as a botanical dietary supplement for the treatment of diabetes and obesity in Chinese folk medicine. Previously, our team has proved that cucurbitanes triterpenoid were involved in bitter melon’s anti-diabetic effects as well as on increasing energy expenditure. The triterpenoids composition can however be influenced by changes of varieties or habitats.

Objectives

To clarify the significance of bioactive metabolites diversity among different bitter melons and to provide a guideline for selection of bitter melon varieties, an exploratory study was carried out using a UHPLC-HRMS based metabolomic study to identify chemotypes.

Methods

Metabolites of 55 seed samples of bitter melon collected in different parts of China were profiled by UHPLC-HRMS. The profiling data were analysed with multivariate (MVA) statistical methods. Principle component analysis (PCA) and hierarchical cluster analysis (HCA) were applied for sample differentiation. Marker compounds were identified by comparing spectroscopic data with isolated compounds, and additional triterpenes were putatively identified by propagating annotations through a molecular network (MN) generated from UHPLC-HRMS & MS/MS metabolite profiling.

Results

PCA and HCA provided a good discrimination between bitter melon samples from various origins in China. This study revealed for the first time the existence of two chemotypes of bitter melon. Marker compounds of those two chemotypes were identified at different MSI levels. The combined results of MN and MVA demonstrated that the two chemotypes mainly differ in their richness in cucurbitane versus oleanane triterpenoid glycosides (CTGs vs. OTGs).

Conclusion

Our finding revealed a clear chemotype distribution of bioactive components across bitter melon varieties. While bioactivities of individual CTGs and OTGs still need to be investigated in more depth, our results could help in future the selection of bitter melon varieties with optimised metabolites profile for an improved management of diabetes with this popular edible Chinese folk medicine.

     

Studies on Mv red cells. II. Immunochemical investigations

The properties of the Mv antigen, a low incidence receptor of the MNSs blood group system, were investigated by serological tests with protease treated red cells and inhibition assays with glycoproteins or peptides from normal and Mv erythrocytes. Our data demonstrate that the Mv receptor represents an allelomorphic form of the 'N' antigen on the Ss sialoglycoprotein, rather than variant of the M receptor on the MN sialoglycoprotein. Anti-Mv plus -N (serum Arm.) reacts with the N, 'N' and Mv antigens, whereas anti-Mv (serum Arch.) is specifically directed against the latter receptor.     

Etude d'une modification de l'expression du locus AB0 chez un sujet 47,XY,(?18q-)+

Résumé Observation d'une modification de l'expression du gène A chez un enfant, trisomique p18 et trisomique p20, issu d'une famille dont deux générations présentent une translocation 18, 20, héritée du grand-père et transmise avec le même haplotype HL-A.

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A modification of the expression of the ABO locus in a subject with karyotype 47,XY(?18q-)+

Summary The case of a modified expression of the A gene in a child with partial trisomy p18 and p20 is described. An 18, 20 translocation passed on by the child's grandfather has been inherited with the same HL-A haplotype in two generations of the family.

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Zusammenfassung Es wird die Beobachtung einer Modifikation der Expression des Gens A bei einem Kinde mitgeteilt mit partieller Trisomie p18 und p20. Es gehört einer Familie an, in der durch zwei Generationen eine vom Großvater überkommene Translokation 18, 20 mit dem gleichen HL-A-Haplotyp vererbt worden ist.

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Travail fait avec l'aide de contrasts de la DGRST et de l'INSERM (U 93)     

Possible linkage of HL-A and GLO

Summary In 21 informative families with 60 children, a possible linkage between HL-A and GLO was found (recombination fraction approximatively 0.15). The sequence of the loci on chromosome 6 might be GLO, HL-A, PGM₃, MNSs.

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Zusammenfassung Koppelungsuntersuchungen bei 21 informativen Familien mit 60 Kindern zeigten, daß die Loci HL-A und GLO möglicherweise gekoppelt sind (Rekombinationsfrequenz ca. 15%). Die Reihenfolge der Loci am Chromosom 6 kann wie folgt angenommen werden: GLO, HL-A, PGM₃, MNSs.

     

Vitamin complex (ascorbic acid,alpha-tocopherol and beta-carotene) induces micronucleus formation in PBMNC unrelated to ROS production

Abstract

Objectives

To evaluate the correlation between reactive oxygen species (ROS) production and micronucleus formation induced by a vitamin complex in peripheral blood mononuclear cells from healthy people aged between 40 and 85 years old.

Methods

Peripheral blood mononuclear cells (PBMNCs) were purified utilizing ficoll-hypaque gradient. ROS production by PBMNCs was quantified by luminol-dependent chemiluminescence in the presence or in the absence of the vitamin complex. DNA damage in PBMNC by the vitamin complex was detected by the micronucleus technique. Statistical analyses were made with the Student's ‘t’ test and the Pearson correlation. P < 0.05 was considered significant.

Results

The vitamin complex induced MN formation in PBMNC but did not augment ROS production. There was no correlation between ROS production and MN formation either in the presence or in the absence of the vitamin complex.

Discussion

There was no increase in the ROS production in the presence of the vitamin complex. The vitamin complex induced an augmentation in the MN formation. There was no correlation between ROS production and the induction of MN formation. Since no association could be detected between ROS production and MN formation, additional studies are required in order to investigate the possible mechanism of vitamin-induced MN formation.