{"title":"Genetic polymorphism of erythrocyte acid phosphatase in Indian populations.","authors":"S M Chahal, I K Sehgal, I J Bansal, P Singh","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The polymorphism of erythrocyte acid phosphatase has been investigated in seven endogamous caste groups of Patiala and Faridkot districts of Punjab in north-west India. The frequency of the Pa allele in these groups varies from 26.8 to 38.3%, but there is no evidence for any significant heterogeneity in the total sample. The Pc allele is present in some of the groups, though in non-polymorphic proportions. Furthermore, the distribution of this polymorphism in Indian populations has been examined using gene frequency data available in the literature. The present study shows that while no clinal component is discernible in the distribution of this red cell enzyme in India, the populations of north India stand out with comparatively high Pa and Pc frequencies, and in almost all regions the incidence of these two alleles is higher in the non-tribals as compared to the tribals. The possible causes of this heterogeneity are discussed.</p>","PeriodicalId":77823,"journal":{"name":"Acta anthropogenetica","volume":"9 4","pages":"177-95"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14984794","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The maximum likelihood estimation of haplotype frequencies of HLA and HLA-like systems and addition loci of genes with the different modes of inheritance.","authors":"B S Rozanski, J J Pietrzyk, G Turowski","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Conventional formula for the estimation of haplotype frequencies proposed by Yasuda was extended for the haplotypes constituting three HLA loci and two additional loci of genes with codominant alleles. The computer programme FREHAP estimates 32 haplotype frequencies rijkmn by the method of maximum likelihood, as well as it calculates the marginal frequencies rijk.. and r...mn, the matrix of expected numbers and the value of chi-square for the goodness of fit. The FREHAP has been programmed in FORTRAN IV for a CDC CYBER 72 computer.</p>","PeriodicalId":77823,"journal":{"name":"Acta anthropogenetica","volume":"9 1-3","pages":"81-90"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14962807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Genetics of B and T cell recognition.","authors":"J S Nowak","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The paper reviews recent studies on the structure and genes of T cell receptor for antigen and organization of immunoglobulin genes.</p>","PeriodicalId":77823,"journal":{"name":"Acta anthropogenetica","volume":"9 1-3","pages":"1-19"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14091267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Hyperphenylalaninemia in Polish children's population.","authors":"B Cabalska, N Duczynska, I Nowaczewska, K Bozkowa","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Differential diagnosis in 144 cases of hyperphenylalaninemia detected through the newborn screening is discussed. In 123 infants phenylketonuria was diagnosed, so they were treated with the low phe diet. Verificatory examinations performed in diagnostically doubtful cases with the use of protein loading confirmed persistent enzymatic defect in all of them. In 21 infants with blood serum phenylalanine level below 15 mg% and lack of phe urinary metabolites, preliminary diagnosis of mild hyperphenylalaninemia was made and they were left without dietary treatment. A decrease with age in phenylalanine and tyrosine values was observed in this group. Mental development score, in the group as a whole, at age 3-7 years was normal. Two cases with relatively low IQ values have been discussed in regard to possible reason of their mental delay.</p>","PeriodicalId":77823,"journal":{"name":"Acta anthropogenetica","volume":"9 1-3","pages":"91-102"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14962808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Ahaptoglobinemia in Favism patients from Iran.","authors":"D D Farhud, P Amirshahi","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Haptoglobin patterns were studied in Favism patients (n = 361). G6PD deficients (n = 42) and healthy controls (n = 168). A high frequency of ahaptoglobinemia (79.50%) was found in Favism patients. No such type was detected in the G6PD deficients and the control group. In the Favism patients, the Hp2-1 and Hp2-2 patterns exhibited the normal and weak (Hypo) type, whereas the G6PD deficient and normal samples did not show such a differentiation. The Hp2 allele frequency was noted to be slightly higher in the G6PD deficient persons.</p>","PeriodicalId":77823,"journal":{"name":"Acta anthropogenetica","volume":"9 4","pages":"206-13"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14985840","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A Rogoyski, B Czartoryska, W J Kleijer, M F Niermeijer, T D Tronowska, D Gorska, B Polatynska-Krzyspiak, J Zaremba
{"title":"Postnatal and prenatal diagnosis of Maroteaux-Lamy syndrome.","authors":"A Rogoyski, B Czartoryska, W J Kleijer, M F Niermeijer, T D Tronowska, D Gorska, B Polatynska-Krzyspiak, J Zaremba","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The clinical course up to 6 years of age is described in a boy with Maroteaux-Lamy syndrome as indicated by the clinical characteristics: increased urinary excretion of dermatan sulphate and deficiency of arylsulphatase B in leucocytes and cultured skin fibroblasts. A subsequent pregnancy of the mother was monitored by enzyme analysis of culture amniotic fluid cells. The prenatal diagnosis of an affected fetus was made and confirmed after termination of the pregnancy.</p>","PeriodicalId":77823,"journal":{"name":"Acta anthropogenetica","volume":"9 1-3","pages":"109-16"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"15054904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The segregation-linkage analysis of genetically determined characters.","authors":"B S Rozanski, J J Pietrzyk","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The model of combined segregation-linkage analysis is presented. The method offers the opportunity of simultaneous estimation of recombination fraction between the locus of genetic marker and that of a disease gene and the evaluation of its inheritance pattern. The computer programme MUBAS estimates combinations of parameters: dominance-d, penetrance-t and recombination fraction by the method of maximum likelihood using the distribution of the observed numbers of sib pairs: ill/proband and healthy/proband.</p>","PeriodicalId":77823,"journal":{"name":"Acta anthropogenetica","volume":"9 1-3","pages":"77-80"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14962806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Genetic analysis of cleft lip and cleft palate in southern Poland. II. Complex segregation analysis.","authors":"J J Pietrzyk, B S Rozanski, E Swisterska","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A complex segregation analysis based on the maximum likelihood method was applied on a sample of 329 families with CP and 687 families with CL +/- P. The results for CP malformations were equivocal, since the authors were unable to distinguish between the hypothesis of recessive inheritance with complete penetrance (chi 2 = 19.60) and that of multifactorial inheritance (chi 2 = 20.38). For CL +/- P lesions the most plausible hypothesis seemed to be that of dominant inheritance with low penetrance (t = 0.277) and relatively high frequency of phenocopies. For these hypotheses the values Q of theoretical recurrence risk were computed and presented.</p>","PeriodicalId":77823,"journal":{"name":"Acta anthropogenetica","volume":"9 1-3","pages":"140-52"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14961074","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Relationships among three Muslim and one Hindu endogamous groups of Madhya Pradesh. I. Genetic distance analysis.","authors":"M F Khan, S Khatoon, R Choube, V Balakrishnan","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Genetic distances have been estimated among three Muslim groups, the Sunni, Shia and the Bohra, and a Hindu group, the Brahman, from five districts of the centrally located state of Madhya Pradesh in India. The distances are based on five genetic systems, the ABO, MN and Rh blood groups. PIC taste sensitivity and colour blindness. None of the 6 distances among the 4 groups was statistically significant. However, cluster analysis showed that Sunni and Shia form a very close cluster which is successively joined by Brahman and Bohra, the latter having comparatively large distances from all the other groups.</p>","PeriodicalId":77823,"journal":{"name":"Acta anthropogenetica","volume":"9 4","pages":"214-24"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14985841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
W Bratkowska, H Hubner, T Ferenc, M Szpakowski, J Krajewski, W Budzko
{"title":"Chromosome studies in 3665 consecutive newborn children.","authors":"W Bratkowska, H Hubner, T Ferenc, M Szpakowski, J Krajewski, W Budzko","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Results of chromosomal studies done on 3665 newborn children from central Poland have been described. As against a global incidence of 1:1022 for trisomy G and 1:1308 for the balanced translocation D/D in infants, the respective figures for the Polish infants were, 1:610 and 1:1221. Likewise, against the global incidence of 1:823 for the karyotype 47, XXY and of 1:1072 for the karyotype 47, XYY in infants, the respective incidence in the Polish infants was 1:626 and 1:939. The study has demonstrated also that the frequency of occurrence of the different widths of the C-bands had a distribution close to normal. The authors have noted that the children with chromosomal abnormalities were more frequently not as well developed at birth as were children with normal karyotypes.</p>","PeriodicalId":77823,"journal":{"name":"Acta anthropogenetica","volume":"9 1-3","pages":"153-61"},"PeriodicalIF":0.0,"publicationDate":"1985-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14961075","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}