Abstract: Before the in t roduc t ion of Cand Q-band ing techniques, the descr ip t ion of a Y au tosome t r ans loca t ion (Noel et al., 1971) was in some doub t because of the diff icul ty of ident i fying the Y ch romosome he te rochromat in . The first observat ions of Q bands could also have confused these with large satellite regions. In fact, mos t of these observa t ions have been found to be t rans loca t ions of the quinacr ine-f luorescent he t e roch roma t in of the Y c h r o m o s o m e to au tosomes (McKay et al. , 1978). This has been es tabl ished by means of D a Dap i s ta ining (Schweizer et al. , 1978); in situ hybr id i sa t ion (Bostock et al., 1978), or identif icat ion of a pa r t i cu la r D N A sequence (Cooke , 1976). Af ter d igest ion by res t r ic t ion endonucleases Hae I I I , two repea ted sequences of 3 .4kb and 2 .0kb can be di rected, which are found only i n male D N A : The a m o u n t of these sequences can be de t e rmined and cor re la ted with the size of he te rochromat i c regions of the Y c h r o m o s o m e ( M c K a y et al. , 1978) or the dosage of this region of Y c h r o m o s o m e (Cooke , 1976).

Abstract: Alloantigen of the Ly-5 system was originally thought to be confined to T lymphocytes (Komuro et al. 1975) but further analysis, aided by the use of Ly-5congenic mice and additional serological methods, revealed that Ly-5 is expressed on most or all hematopoietic cells at some stage of differentiation (Scheid and Triglia, unpublished data). We report here some biochemical features of the Ly-5 system, with emphasis on the isolation of Ly-5 from different Ly-5 + cell populations. Viable cells were radio-iodinated as described elsewhere (Baur et al. 1971) and lysates made by solubilization with NP-40. Cell-surface lg was removed with rabbit anti-mouse lg followed by goat anti-rabbit Ig. Antigen was precipitated from the cleared lysates by reaction with alloantiserum followed by goat anti-mouse Ig. These precipitates were solubilized in SDS buffer solution and run on either SDS polyacrylamide gel electrophoresis (SDS PAGE) cylindrical gels of 10, 8.5, 7.5 and 5~o acrylamide, or on slab gels of 7.5 and 5% acrylamide (Laemmli 1970). The cylindrical gels were sliced into I mm fractions and counted in a Packard Gamma Counter. The slab gels were stained, dried on filter paper, and autoradiographed (Kodak type B film; Dupont Cronex Screen, Exposure at -70~ Molecular weight (MW) was determined by comparison with the following standard proteins of known MW run on parallel lanes of the same slab gel:/~-galactosidase 116K, rat albumin 67K, ovalbumin 43K and carbonic anhydrase 29K. (Sigma Chemicals). Repeated estimates of MW by this method showed variation of the order of _+107o. With thymocytes, material from both c~-Ly-5.1and e-Ly-5.2 precipitates (antisera defined in Table 1) ran on SDS-PAGE as a molecule of 175K with a shoulder of lower MW (Fig. 2). But with spleen cells, both e-Ly-5.1 and c~-Ly-5.2 yielded three peaks of 175K, 185K and 220K (Fig. 1). The 175K and 185K species were difficult to separate on cylindrical gels but were clearly resolved on slab gels. Seen on slab gels, the 175K thymocyte peak is broad (Fig. 2), as expected of heavily glycosylated proteins, (though we have no evidence that Ly-5 has such a structure).

Abstract: Chromosome heteromorphisms of 34 trisomic abortuses and their parents were compared to determine the origin of the extra chromosome. Fourteen of the trisomies were maternal in origin, ten resulting from a first-meiotic-division error and four from either first- or second-meiotic-division errors. No paternally derived trisomy was identified.

Abstract: This article deals with three related questions: (1) whether malignancy is determined by genetic or epigenetic mechanisms; (2) whether epigenetic mechanisms, as conventionally defined, actually exist; (3) what criteria are appropriate for defining dominance or recessiveness of the malignant state in cell fusion experiments.

Abstract: Two cases of trisomy 12p due to a familial translocation t(12;21) (p11;p11) inherited through three generations are presented. The clinical features of both affected individuals are consistent with those previously reported. Study of the NORs by silver staining showed translocation of the NOR from chromosome 21 onto the der(12) and suggested that the activity of this site has been suppressed in some carriers.

Abstract: The incidence of regression of Rous sarcoma virus (RSV)-induced tumors in a noninbred line of New Hampshire chickens was approximately six percent (Cotter et al. 1973, Collins et al. unpublished data). But in a mating of one sire with two dams from this line, the mean incidence of tumor regression (of 30 progeny developing tumors) was 50 percent (Collins et al. unpublished data). Thus, although essentially a progressor line, certain individuals transmitted genes favorable to tumor regression. More recently Collins and co-workers (1977) studied the fate of RSVinduced tumors in an F 2 population from a cross of RPRL inbred lines 61 and 151 which was segregating at three alloantigen loci(B, D and I). Among the F 2 segregants B:B 2, B:B 5, and BSB 5 the percentage of chickens dying of terminal tumors by 70 days post inoculation was 5, 26 and 93, respectively. Seventy-five percent of B:B 2 chickens completely or partially regressed their tumors in contrast to none of the BSB 5 animals. The D and I loci had no detectable effect on tumor regression. Schiermann and co-workers (1977) concluded that regression of RSV-induced tumors was a dominantly inherited trait controlled by a gene within, or closely linked to, the major histocompatibility complex (MHC). Thus, in the chicken the MHC, for which the B blood group system serves as a marker, has a gene(s) which dramatically affects the fate of RSV-induced tumors. The objective of this research was to determine the effect of genes in the immediate chromosomal region of the MHC on tumor regression in this line of New Hampshires. Chickens were produced in two hatches from a flock mating of a noninbred line of New Hampshires, U N H 105, known to be genetically susceptible to subgroup A RSV. Chicks were blood typed for B alloantigens at 4 weeks of age using reagents developed in stocks originating from inter se matings of crosses between White Leghorns and experimental birds of heavy breed origin. Three alleles, B 23, B 24 and B 26 had been previously established as existing in this line (Brilles, unpublished). Using appropriate reagents, the 131 chicks from the two hatches were classified into six genotypes-B23B 23, B24B 24, B26B 26, B23B24, B2SB 26, and B24B26. A highly purified pseudotype of Bryan high-titer Rous sarcoma virus designated BH RSV(RAV-1),

Abstract: It has been established that hemoglobinopathies are widespreat in Southeast Asia, this being particularly well documented in Thailand (Wasi et al., 1969). It appears, however, that for technical a n d / o r geographical reasons, the incidence of these diseases, including the various subtypes of thalassemia, could be still higher in Laos (Baup, 1964). The prel iminary report of a 4-year investigation has recently been published (Sicard et al., 1978). As a consequence of multiple combinat ions o f abnormal genes, such as H b E , and various aand fl-thalassemias, a wide spectrum of syndromes is encountered, ranging f rom asymptomat ic heterozygotes to lethal hydrops fetalis. These associations sometimes raise difficult diagnostic questions. Fur thermore , the increased gravity of most o f tile associated forms constitutes an impor tant public health problem in Laos. Dur ing this investigation, an at tempt was made to use multiple approaches, i.e., clinical, hematologic, genetic, and biochemical, to allow unders tanding and characterizat ion of the observed patterns.

Abstract: A family pedigree is reported in which males in four generations are affected with midline isolated cleft palate. This is the second report of cleft palate inherited as a sex-linked recessive trait, and it emphasizes the importance of careful pedigree construction when counseling families of children afflicted with this disorder.

Abstract: A 3-year-old girl with duplication 9 (p22→p13) is reported. The presence of a classical 9p trisomy phenotype in this patient suggests that this region (or part of it) is responsible for the major, typical clinical stigmata of this partial autosomal trisomy syndrome.

Abstract: Sherman (1979) has shown that there is a positive correlation between chromosome number and the incidence of eusociality in insects. He hypothesizes that this correlation is caused by the fact that the degree of relatedness between any two sibs is not a constant but rather is a random variable, due to the stochastic nature of meiosis and sexual reproduction. Thus, all sibs are not equally related from a genetic point of view. He then argues that if phenotypic differences are positively correlated with genotypic differences, there may be selection favoring those workers who discriminate and preferentially assist only those sibs that are phenotypically, and thus genotypically, most similar to themselves. Such preferential ssistance would interfere with the evolution of eusociality under Sherman's hypothesis. Finally, Sherman assumes the variance in relatedness among sibs decreases as chromosome number increases; hence, the importance of discrimination in interfering with the evolution of eusociality should be most important when chromosome number is small. The purpose of this note is twofold: (1) to quantify the relationship between chromosome number and variance in relatedness among sibs, and (2) to present some additional mechanisms that could contribute to the observed correlation between chromosome number and eusociality. The relationship between chromosome number and variance in relatedness among sibs in a diploid species has been quantified under the assumptions of no crossingover and equal chromosome sizes (i.e., all chromosomes have the same number of loci) by Barash et al. (1978). They show that the distribution of x, the number of chromosomes hared by two sibs, is binomial,

Abstract: An interstitial deletion of chromosome 13 with breakpoints at 13q22 and 13q32 is presented. The clinical findings associated with this deletion are discussed in relation to the correlations of specific chromosomal bands with constellations of congenital defects as described by Niebuhr and Ottosen (1973), Niebuhr (1977), Lewandowski and Yunis (1975), and Noel et al. (1976).

Abstract: A de novo 16q- trisomy was found in a patient with severe mental retardation and mild physical abnormalities. A preliminary delineation the clinical features characteristic of trisomy 16q- is proposed, based upon comparison of the two cases identified so far. The mild phenotypical effects of this chromosome imbalance suggest that the alleged lethality of partial chromosome 16 aneuploidies should be reconsidered.

Abstract: M1 Drosophila melanogaster laboratory strains fall into two main classes (inducer and reactive) on the basis of a quite specific kind of partial intersterility. All strains from the wild are inducer. The genetic element responsible for the inducer condition (I factor) is found on most of the inducer strains chromosomes: a chromosome carrying the / fac tor (i + chromosome) is characterized by its ability to give rise, when introduced by a paternal gamete into a reactive oocyte, to a female showing reduced fertility; chromosomes of inducer strains which do not carry I are denoted i °. Another result of the nucleocytoplasmic interaction between the I factor and the reactive cytoplasm, is the ability of i ° and reactive originating chromosomes to irreversibly acquire I, independently of any classical genetic recombination. However, this so-called chromosomal contamination does not occur in inducer i+/i ° heterozygous females. Using such females, mapping experiments showed that I can be located at a single locus on the w ct .f X chromosome and a single locus on the b bw second chromosome (approximate locations: 1-33 and 2-61) and at probably two independent loci on the see third chromosomes. Abnormal second chromosome transmission frequencies were observed; they do not seem to be related to previously reported segregation distortion phenomena.

Abstract: A patient with primary thrombocytosis was found to present an acquired deletion of the long arm of chromosome 21 (21q-) A similar observation reported in the literature is hereby confirmed

Abstract: The clinical findings in a child with a terminal deletion (1) (q42»qter) is described and compared with three cses with a similar chromosomal anomaly.

Abstract: The practicing physician discovered human genetics primarily as a result of two events. The use of the atomic bomb generated a vast amount of attention because of the fear of genetic hazards of radiation. Next, the discovery that the Down syndrome resulted from the presence of an extra chromosome finally focused the vision of the medical profession on human genetics as an area of importance in disease. It was also necessary that the erroneous fatalism about the impossibility of treating genetic diseases had to diminish before medicine would find human genetics attractive for research in therapeutic techniques. All of these things have come to pass and human genetics cannot help but enjoy a distinguished and extremely useful future.

Abstract: We report a family with five members presenting an extra bisatellited microchromosome. Two of them also present trisomy 21. We discuss the relationship between trisomy and the extra chromosome.

Abstract: We have studied the active dispersal behaviour of Drosophila subobscum Coll. in a citrus orchard near Preveza (in N. W. Greece) following the experimental design proposed by Crumpacker & Williams and using fluorescent dusts to mark wild animals captured which were subsequently released. The parameters quantifying dispersal have been estimated and do not differ from the ones found in similar studies of Begon in English populations and of Burla & Greuter in Swiss populations. D. subobscura however does differ from its American relatives of the obscura group in having a lower dispersion activity. Density estimations of the autumn size indicate that natural populations in Greece are larger than the ones in England. From these densities we derived a tentative estimation of the effective size of the panmictic unit. This size is 20 to 340 times greater than the one estimated by a genetic method based on the temporal differences of allozyme frequencies. However an accurate ecological estimation of the effective size requires a density estimation of the minimal (winter) size and the figure calculated by us is no doubt an overestimation. Drosophila species usually used in populationat genetic studies. The well known ecological technique of releasing marked individuals and recapturing them was used, at the beginning with visual mutants bred in the laboratory. Since then the technique has been improved in experimental design as well as in the marking technique by the use of ultra-violet fluores: cent dusts. The interest of these studies has been revived by the selectionist-neutralist controversy and especially by some models proposed by the Kimura school (Crow & Kimura, 1970) which predict that the immigration of even one individual per generation in every local population is enough to ~ansform them in to a single panmictic unit. We have assembled some genetical information concerning the effective density in Greek natural populations of Drosophila subobscum (Loukas, Krimbas & Vergini, in press). With the present paper we start reporting ecological data which will eventually permit us to arrive at comparisons between ecological and genetical estimations. Thus the present paper reports an effort to quantify dispersal in this species and provides also some density estimations.

Abstract: A male patient with mental retardation and typical clinical features of 10p trisomy syndrome was found to have a duplication of the short arm of chromosome 10 attached to the short arm of the Y chromosome.

Abstract: This paper presents the clinical and cytogenetic findings in a female patient with secondary amenorrhea and normal phenotype. Some difficulties related to karyotype-phenotype correlation are discussed.

Abstract: Molecular genetics has made giant strides during the past three decades. DNA (deoxyribonucleic acid) was synthesized in vitro, its intimate structure was elucidated, the genetic control of enzyme and virus synthesis was discovered, and the genetic code was deciphered.

Abstract: Mitochondrial malic enzyme MEM (E.C. 1.1.1.40) is present in human leukocytes; the polymorphism of MEM thus can be easily demonstrated using routine starch gel electrophoresis. Data on formal genetics are given. The gene frequency of ME1Mwas estimated to be 0.67±0.02.

Abstract: A questionnaire completed by 542 secondary school biology teachers in four states in widely divergent parts of the United States reveals the genetics educational needs of the respondents. The data suggest that, although the teachers are fairly confident of their ability to teach about classical and molecular genetics, they are much less knowldgeable of the recent developments in genetics that impinge on the science/society interface. The data further imply that if teachers are to deal effectively with these current and controversial topics, they will need instruction not only in human and medical genetics, but also in the methodologies of teaching about controversial issues. Finally, the data collected and the literature reviewed suggest that if the general public is to be served effectively, college and university courses in general genetics should include a major emphasis on recent developments in human genetics.

Abstract: Formation of very fast sedimenting DNA (VFS-DNA) in cells of Escherichia coli infected with phage T4 carrying a defect in gene 49 was differentially affected by a secondary mutation in gene 30 or 46; a mutation of gene 46 markedly reduced formation of VFS-DNA, whereas that of gene 30 did not.

Abstract: Genes linked to the murine major histocompatibility complex can profoundly affect the tempo of rejection of skin grafts bearing foreign H-non-2 antigens (histocompatibility antigens other than those encoded within H-2). The influence of H-2 can be observed either at the level of the donor (Wachtel et al. 1973 b, Kr/tlov',i and D6mant 1976, Wettstein et al. 1977), or the host (Bailey and Hoste 1971, Gasser and Silvers 1971, Wettstein and Haughton 1977) It is natural to ask if genes not linked to H-2 might also play some rate-affecting role in graft rejection. This, too, appears to be true. Bailey (1971) and Gasser and Silvers (1971) independently reported differences in the rejection of syngeneic male skin between groups of female mice, identical at H-2, but otherwise genetically unalike. In neither of these studies, in contrast to those involving H-2 effects, was it possible to decide if the genetic components of the non-H-2 background producing the differing rejection rates observed could be assigned solely to the donor or the host, since the non-H-2 backgrounds of both were varied simultaneously. There are, however, indications in the literature that non-H-2 genetic background differences in the host alone are sufficient to alter rejection tempos. Gasser and Shreffler (1974) found that only 2 of 18 B10.D2 IH-2d/H-2 d) female mice rejected B10.D2 male skin within 100 days, but 18 of 31 (B10.D2 • B10.D2 backcross females, serologically typed as H-2 d/H-2d, rejected B 10.D2 male skin within the same period. Since the H-2 genotypes of the females were the same in both groups, it may be concluded that non-H-2 genes of HTG origin present in the backcross females caused the greater responsiveness. Although primarily directed toward showing the influence of H-2 on skin graft rejection, studies by Wachtel and co-workers provide a further suggestion of nonH-2 background effects on this process. They found (Wachtel et al. 1973 b) that (B10 x B10.BR)F 1 females (H-2b/H-2 k) rejected skin from B10 males with median survival time (MST) of 20.0 days, while in a separately published paper (Wachtel et al. 1973a) they found the MST of B6 male skin on (B6 x C3H)F 1 female hosts (H-2b/H-2 k) to be more than 100 days. Although the C57BL/6(B6) and

Abstract: The immune response to the random linear terpolymer, poly-(L-Glu, L-Lys, L-Phe), G L ~ is under histocompatibility linked immune response gene (H-linked lr gene) control (Doffer al. 1975). In order to investigate the possible influence that H-linked Ir genes have on the expression ofidiotypes, we analyzed the antibodies induced to GL4' for the presence of shared cross-reactive idiotypic determinants (Kipps et al. 1977). The purified anti-GL4~ antibodies from individual GLib responder mice were each used to immunize guinea pigs for the production of anti-idiotypic antisera. It was observed that a guinea pig antiserum, raised to the purified anti-GLib antibodies from one B10.A(5R) mouse, could, after extensive absorption with normal B10.A(5R) immunoglobulin, specifically bind 45-60% of the radiolabeled purified anti-GL@ antibody preparation used as immunogen (Kipps et al. 1977). To detect cross-reactive idiotypic determinants closely associated with the antibody combining site, an assay was developed from the rationale that an antiidiotypic antiserum capable of binding determinants found in or around the immunoglobulin combining site should compete with antigen in its ability to specifically interact with antibody (Brient et al. 1971). Using this assay, it was noted that the absorbed guinea pig anti-idiotypic antiserum specifically inhibited the antigen binding capacity of the B 10.A(5R) anti-GLib antibodies used as immunogen and the GL-binding activity of other anti-GLib antiserum samples obtained from individual mice of the same strain, provided that the anti-idiotypic antiserum was in excess. This inhibition was specific in that the guinea pig antiserum could not inhibit the antigen-binding activities of antisera raised to unrelated antigens (Kipps et al. 1977). The degree of inhibition noted for anti-GLq' antiserum samples from individual B10.A(5R) mice varied from 0 to 100 percent. Thus, as noted in other systems