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Biomedical subjects

J Seger

Publications and source records attributed to J Seger.

At least 55 records · Page 3Linked to original sources

Expected and observed proportion of subjects excluded from paternity by blood phenotypes of a child and its mother in a sample of 171 families.

The proportion of exclusion for a given mother-child pair is the proportion of males excluded from the paternity of this child of a known mother and may be calculated given both the child's and mother's phenotypes and the population gene frequencies. Its expected value in the population is equal to the probability of exclusion, which expresses a laboratory's capability to exclude from paternity nonbiological fathers.In a sample of 171 families examined for 20 genetic systems at the National Blood Group Reference Laboratory, 25 exclusions of putative fathers were detected. The ranking by efficiency of the systems used in these exclusions fits the "expectation of their efficiency," and the average proportion of males excluded by the child's and mother's phenotypes is not different from the expected proportion. Additionally, the repetition of exclusions in an incompatible putative father-mother-child trio is not dependent on the overall proportion of males excluded by the mother and the child, but rather on some high values of the proportion of excluded men in some specific systems.Here, formulas and some factors modifying these parameters as well as a more efficient sequence of examinations to exclude paternity than has previously been used are given. Using this sequence, laboratories which carry out several analyses per day can work by levels of five examinations at a time, done in a particular order, to obtain a rather rapid exclusion of certain families.

Adult↗

[Rare electrophoretic variants of the proteins adenylate kinase 1, phosphoglucomutase 1 and 2, and transferrin (AK1, PGM1, PGM2, Tf) in two populations of French Guiana].

Two small populations of inner French Guiana were investigated for red cell enzymes and serum proteins. Rare variants were found in four systems (AK1, PGM1, PGM2, Tf). Similarities between some of these variants and those found in other Amerindian populations indicate that these genetic markers may be valuable in studies of Amerindians. A mutation rate has been estimated from the results.

Adenylate Kinase↗

[Validation of paternity in a father-mother-child trio, by the use of genetic markers. Description of a program to aid in the decision. Determination of the optimal sequence of examinations].

The knowledge of human polymorphism provides aid to the decision for the diagnosis parenthood. This work gives an algorithm of paternity diagnosis on a (presumed father, mother, child) triplet: the program verifies the logical relationships and calculates several indices used to estimate the likelihood of non-exclusion. We propose to attach greater importance to a neglected index: the percentage of subjects for which the paternity is excluded for the doublet (Mother, Child). Finally, we determine the most efficient and most economical sequence for the sequential use of genetic markers.

Alleles↗

[Serum proteins and erythrocyte enzymes. Evaluation of frequencies in 2 populations in the Gabon].

The results of the electrophoretic phenotyping of two serum groups (C'3 and Transferrine) and seven red cell enzymes (PAc, PGM, AK, ADA, 6PGD, sGPT and Est D) in two groups of negroes from Gabon are presented. The frequencies are in the normal range observed for African populations except for acid phosphatase in Southern Africa; Khoisan people have frequencies of the "Negroe allele R" higher than in any other population of the world. In Obamba and Bateke populations frequencies of Pr is 0.013.

Adenosine Deaminase↗

[Genetic analysis of a population with abnormalities of gene frequencies].

Nineteen out of the 53 blood donors of french village with 241 inhabitants (Cezay Loire) are Rh negative (D--). This discrepancy in the distribution is analysed. 1.--The study of the genetic erythrocyte markers (ABO and Rh system for 158 inhabitants, Kell, Rautenberg, Duffy, Kidd, MNSs, P1 Lutheran, PGM1, PGM2, 6 PGD, AK, ADA, Acid phosphatase systems for 104 inhabitants) show significant abnormal gene frequencies (No. 10%) compared with a control population from Saint-Etienne, for A1, Ms, r, P1 alleles; conversely rare alleles do not seem to exist. HLA system was not tested. 2.--The genetic study led to: a) a demographic study which implied 7840 registrar's certificates and the building up of 1364 families to which the 5096 subjects belonged identified and having lived in Cezay since 1607 (this date corresponds to the earliest registrar's certificate). b) it also led to the analysis of the origin and evolution of the genetic inheritance throughout the 13 generations of known inhabitants. The calculation of the chances of each generation having passed on its genetic material to following generations shows that: Cezay has an integrated population; 30% of the genes are renewed for each generation the average value of each founder can vary according to the various generations but there seems to exist a "founder effect" of the Rh--(D--) having been and lived in the village before 1860. Although they represent 68% of the total population, the tested samples can be contested for certain systems, in its constitution (formation, choice) which prevents from ascertaining the foundation effect observed. The authors underligne the contribution of immunogenetics to the genetics of populations, and show the incidence of the choice of samples in the method used.

Alleles↗

[Satellited Y chromosome (Yqs) and nucleolar organizer occurring de novo].

A satellited Y chromosome (Yqs) occurred de novo in a boy born to first cousins. The child had severe mental retardation, facial dysmorphism, congenital heart disease, and amaurosis, and died at 6 months and of age. The chromosome rearrangement was confirmed by R-, G-, C-, Q-, and Ag-NOR banding. Its significance and the difficulty of genetic counseling are discussed.

Cell Nucleolus↗

[Frequency of genes corresponding to adenosine deaminase, 6-phosphogluconate dehydrogenase and esterase D polymorphism in the Parisian population].

The frequencies of the genes expressing the variation of erythrocytic enzymes ADA, 6PGD and esterase D have been estimated in Paris population. These results are as follows: (formula see text). These are compared to those of other european populations. Although ADA shows the lowest frequency in the french population, the distribution is not significantly different from the whole european distribution. No difference is noticeable for 6PGD and esterase D.

Adenosine Deaminase↗

[Rare phenotypes of alpha-1 antitrypsin: study of a case of the M1X variant].

Alpha-1 antitrypsin is the major component responsible for the normal alpha 1 band in human serum. Some genetic variants giving double alpha-1 band, may be associated with pathological process. In the course of a systematic screening of blood donors a double-band alpha-1 pattern was observed in a serum, due to the heterozygous expression of a genetic variant of the PI system. A possible clinical significance of the variant was investigated by characterizing it. The very rare allotype PI*X was identified and its frequency in the population of french blood donors was estimated around to one for 10,000.

Adult↗

Serum protein polymorphism in Papua New Guinea Eastern Highlands.

Four protein polymorphisms: haptoglobin (HP), group specific component (GC), third component of complement (C3) and transferrin (TF), were investigated in Baruya tribes and several other Anga tribes living high in the Wonenara and Marawaka valleys in Papua New Guinea Eastern Highlands. A non-Anga tribe, the Aziana or Kenaze was also sampled. TF*D variant was identified in every group except Usarumpia. A number of anhaptoglobinaemic individuals was noticed. Environmental factors causing hemolysis and haptoglobin consumption are suggested. HP*1 and GC*1 frequencies were high, as usually observed in New Guinea. The Anga tribes are protected from malaria and represent a model of human isolates. The present study confirms this situation.

Black People↗

Red cell enzyme polymorphisms in Papua New Guinea Eastern Highlands.

Ten red cell enzyme polymorphisms, malic dehydrogenase (MDH1), adenylate kinase (AK), phosphohexose isomerase (PHI), adenosine deaminase (ADA), esterase D (ESD), glutamic pyruvic transaminase (GPT), acid phosphatase (ACP1), phosphoglucomutase 1 and 2 (PGM1, PGM2), phosphogluconate dehydrogenase (PGD) were investigated in the Baruya tribe and several Anga tribes living high in the Wonenara and Marawaka valleys in Papua New Guinea Eastern Highlands (6.5S, 145.5E). Also a non-Anga tribe, the Aziana or Kenaze, was sampled. Variants were observed in ADA, PGM1 and PGM2. AK and PHI were monomorphic, all subjects being AK 1 and PHI 1; MDH1 was also monomorphic in Anga while variants were observed in Aziana. This latter tribe differed markedly in each system from the Anga peoples.

Alleles↗