bdim: Biblioteca Digitale Italiana di Matematica

Un progetto SIMAI e UMI

Referenza completa

Terrenato, Luciano and Novelletto, Andrea:
Human genetic polymorphisms and fertility analysis: preliminary data
Atti della Accademia Nazionale dei Lincei. Classe di Scienze Fisiche, Matematiche e Naturali. Rendiconti Serie 8 80 (1986), fasc. n.1-2, p. 37-50, (English)
pdf (1.67 MB), djvu (1.91 MB).

Sunto

Le possibili relazioni tra fertilità e polimorfismi genetici nell'uomo sono state analizzate sulla base degli esami effettuati in un campione di famiglie fertili italiane esaminate al momento del parto di uno dei figli. I risultati ottenuti per circa 20 marcatori genetici sono stati confrontati con quelli riportati in letteratura su campioni di famiglie non selezionate per ciò che riguarda misure correlate ai differenziali di fertilità. Nel complesso i dati non rivelano alcun effetto selettivo misurabile. Viene inoltre discussa la possibilità che sporadici errori tecnici, benché rari, abbiano un effetto nel mascherare deviazioni significative dall'equilibrio.
Referenze Bibliografiche
[1] FORD E.B. (1940) - Polymorphism and taxonomy. In «The new systematics» (J. Huxley, ed.) Oxford, The Clarendon Press.
[2] MORTON N.E., KIEGER H. and MI M.P. (1966) - Natural selection on polymorphisms in Northeastern Brazil. «Am. J. Hum. Genet.», 18, 153-171.
[3] HIRAIZUMI Y. (1964) - Prezygotic selection as effector in the maintenance of variability. «Cold Spring Harb. Symp. Quant. Biol.», 29, 51-60.
[4] CHOWN B., LEWIS N. and KAITA H. (1967) - The inheritance of the MNSs blood groups in a Caucasian population sample. «Am. J. Hum. Genet.», 19, 86-93.
[5] WIENER A.S., GORDON E.B. and WEXLER J.P. (1963) - The M-N types, with special reference to the mating MN X MN. «Expl. Medicine and Surgery», 21, 89-100.
[6] GALATIUS-JENSEN F. (1957) - Further investigations on the genetic mechanism of the haptoglobins. «Acta Genet.», 7, 549-564.
[7] HARRIS H., ROBSON E.B. and SINISCALCO M. (1959) - Genetics of the plasma protein variants. In «Biochemistry of human genetics», G.E.W. Wolstenholme and C.M. O'Connor, eds. Boston, Little, Brown and Co., pp. 151-173.
[8] KIRK R.L. (1968) - Haptoglobin groups in man. «Monogr. in Human Genet.», 4 Karger, Basel.
[9] MACDONALD J.L. and PAPIHA S. (1974) - A segregation analysis of the association of haptoglobin types and ABO blood groups. «Hum. Hered.», 24, 45-52.
[10] SUAREZ B., PIERCE J.A., RESTA R., HARLAN F. and REICH T. (1982) - Alpha-1-antitrypsin allele Pi(S) fails to show segregation distortion. «Hum. Hered.», 32, 246-252.
[11] VALENZUELA C.Y. and HARB Z. (1982) - A mother-child segregation distortion for the the Rh system. New evidence for another compatibility system associated with Rh. «Am. J. Hum. Genet.», 34, 925-936.
[12] LEVITAN M. and MONTAGU A. (1971) - Textbook of Human Genetics, Oxford Univ. Press.
[13] BEER A.E., QUEBBEMAN J.F., HAMAZAKI Y. and SEMPRINI A.E. (1985) - Pregnancy outcome in human couples with recurrent spontaneous abortions: the role(s) of HLA antigen sharing, ABO blood group antigen profiles, female serum mlr blocking factors, antisperm antibodies and immunotherapy. Expl. clin. Immunoget. in press.
[14] BATTISTUZZI G., SCOZZARI R., SANTOLAMAZZA P., TERRENATO L. and MODIANO G. (1974) - Comparative activity of red cell adenosine deaminase allelic forms. «Nature», 251, 711-713.
[15] SNYDER L.H. (1932) - The inheritance of taste deficiency in man. «Ohio J. Sci.», 32, 436-440.
[16] WIENER A.S. (1943) - Blood groups and transfusions, 3rd ed. Thomas, Springfield Ill.
[17] FILDES R.A. and HARRIS H. (1966) — Genetically determined variation of adenylate kinase in man. «Nature», 209, 261-266.
[18] RAPLEY S., ROBSON E.B. and HARRIS H. (1967) - Data on the incidence, segregation and linkage relations of the adenylate kinase (AK) polymorphism. «Ann. Hum. Genet.», 31, 237-242.
[19] SPENCER N., HOPKINSON D.A. and HARRIS H. (1964) - Phosphoglucomutase polymorphism in man. «Nature», 204, 742-745.
[20] ERIKSSON A.W., KIRJARINTA M., LEHTOSALO T., KAJANOJA P., LEHMANN W., MOURANT A.E., TILLS D., SINGH S., BENKMANN H.G., HIRTH L. and GOEDDE H.W. (1971) - Red cell phosphoglucomutase polymorphism in Finland-Swedes, Finns, Finnish Lapps, Maris (Cherémisses) and Greenland Eskimos, and segregation studies of PGM (1) types in Lapp families. «Hum. Hered.», 21, 140-153.
[21] KUHNL P. and SPIELMANN W. (1978) - Investigations on the PGM (al) polymorphism by isoelectric focusing. «Hum. Genet.», 43, 57-67.
[22] KOMPF J., BISSBORT S. and RITTER H. (1975) - Red cell glyoxalase I: formal genetics and linkage relations. «Humangenetik», 28, 249-251.
[23] KUHNL P., SCHWABENLAND R. and SPIELMANN W. (1977) - Investigations on the polymorphism of glyoxalase I in the population of Hessen, Germany. «Hum. Genet.», 38, 99-106.
[24] ERIKSEN B. (1979) - Human red cell glyoxalase I in Denmark and its application to paternity cases. «Hum. Hered.», 29, 265-271.
[25] HOPKINSON D.A., SPENCER N. and HARRIS H. (1963) - Red cell acid phosphatase variants: a new human polymorphism. «Nature», 199, 969-971.
[26] HOPKINSON D.A., COOK P.J.L. and HARRIS H. (1969) - Further data on the adenosine deaminase (ADA) polymorphism and a report of a new phenotype. «Ann. Hum. Genet.», 32, 361-367.
[27] CHEN S.H., GIBLETT E.R., ANDERSON J.E. and FOSSUM B.L.G. (1972) - Genetics of glutamic-pyruvic transaminase: its inheritance, common and rare variants, population distribution, and differences in catalytic activity. «Ann. Hum. Genet.», 35, 401-409.
[28] HOPKINSON D.A., MESTRINER M.A., CORTNER J. and HARRIS H. (1973) - Esterase D: a new human polymorphism. «Ann. Hum. Genet.», 37, 119-137.
[29] RITTNER C. and MULLER G. (1975) - Esterase D : some population and formal genetical data. «Hum. Hered.», 25, 152-155.
[30] BARKER R.F. and HOPKINSON D.A. (1978) - Genetic polymorphism of human phosphoglycolate phosphatase (PGP). «Ann. Hum. Genet.», 42, 143-148.
[31] BATTISTUZZI G., PETRUCCI R., SILVAGNI L., URBANI F.R. and CAIOLA S. (1981) - Delta-aminolevulinate dehydrase: a new genetic polymorphism in man. «Ann. Hum. Genet.», 45, 223-229.
[32] EIBERG H., MOHR J. and NIELSEN L.S. (1983) - Delta-aminolevulinatedehydrase: synteny with ABO—AK 1-ORM (and assignment to chromosome 9). «Clinical genetics», 23, 150-154.
[33] BISSBORT S., BENDER K., WIENKER T.F. and GRZESCHIK K.H. (1983) - Genetics of human S-adenosylhomocysteine hydrolase. A new polymorphism in man. «Hum. Genet.», 65, 68-71.
[34] ECKERSON H.W., WYTEC M. and LADU B.N. (1983) - The human serum paraoxo xonase/arylesterase polymorphism. «Am. J. Hum. Genet.», 35, 1126-1138.
[35] TURNER B.M., TURNER V.S., BERATIS N.G., and HIRSCHHORN K. (1975) - Polymorphism of human alpha-fucosidase. «Am. J. Hum. Genet.», 27, 651-661.
[36] OLAISEN B., TEISBERG P., JONASSEN R. and GEDDE-DAHL T. Jr. (1979) - The C4 system. «Hum. Genet.», 50, 187-192.
[37] RITTNER C., HARGESHEIMER W. and MOLLENHAUER E. (1984) - Population and formal genetics of the human C81 polymorphism. «Hum. Genet.», 67, 166-169.
[38] GRAHAM J.B., EDGELL J.S., FLEMING H., NAMBOODIRI K.K., KEATS B.J.B. and ELSTON R.C. (1984) - Coagulation factor XIII: A useful polymorphic genetic marker. «Hum. Genet.», 67, 132-135.
[39] FELICETTI L., URBANI C., COLOMBO B., BENINCASA A., NOVELLETTO A. and TERRENATO L. (1981) - Hb A2 levels at birth. 6th International Congress of Human Genetics. Jerusalem.
[40] LUCARELLI P., SCACCHI R., CORBO R.M., SCOZZARI R., FORTUNA G., ELEUTERI P., NOVELLETTO A., SAMPIETRI E. and TERRENATO L. (1981) - Human glyoxalase I and phosphoglucomu-mutase-3 polymorphisms in 850 italian families. 6th International Congress of Human Genetics. Jerusalem.
[41] NOVELLETTTO A. and TERRENATO L. (1981) - Morphological variables through three generations. 6th International Congress of Human Genetics. Jerusalem.
[42] SANTOLAMAZZA C., NOVELLETTO A., SAMPIETRI E., MENNUCCI M., PETRUCCI R., SCOZZARI R., DE ANGELIS L., MODIANO G. and TERRENATO L. (1981) - Human phosphoglycolate phosphatase polymorphism: gene frequencies, mating types and segregation analysis in Italian families. 6th International Congress of Human Genetics. Jerusalem.
[43] SCOZZARI R., TRIPPA G., SANTACHIARA-BENERECETTI A.S., TERRENATO L., IODICE C. and BENINCASA A. (1981) - Further genetic heterogeneity of human red cell phosphoglucomutase-1: a non—electrophoretic polymorphism. «Ann. Hum. Genet.», 45, 313-322.
[44] SIMI S. and TURSI F. (1981) - The segregation of C band polymorphism of human chromosomes 1, 9, 16, Y. «Clinical Genet.», 20, 392.
[45] SIMI S. and TURSI F. (1982) - Polymorphism of human chromosomes 1, 9, 16, Y: variations, segregation and mosaicism. «Hum. Genet.», 62, 217-220.
[46] SIMI S., TURSI F. and TOMMASEO D. (1981) - Cytogenetics survey of two unselected populations from central Italy. «Clin. Genet.», 20, 392-393.
[47] BELLONI G., BENINCASA A., BOSI A., DE CAPOA A., DI CASTRO M., FERRARO M., LOMBARDI D., MOSTACCI C., PELLICCIA F., PRANTERA G. and ROCCHI A. (1983) - Screening for cytogenetic polymorphisms in a random sample of liveborn infants from Italian population. «Acta Antropogenetica», 7, 205-217.
[48] FELICETTI L., NOVELLETTO A., BENINCASA A., TERRENATO L. and COLOMBO B. (1984) - The HbA/HbA2 ratio in newborns and its correlation with fetal maturity. «Br. J. Haematol.», 56, 465-471.
[49] VACCARO A.M., MANDARA I., MUSCILLO M., CIAFFONI F., DE PELLEGRIN S., BENINCASA A., NOVELLETTO A. and TERRENATO L. (1984) - Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families. «Hum. Hered.», 34, 197-206.
[50] NOVITSKI E. and SANDLER L. (1956) - The relationship between parental age, birth order and the secondary sex-ratio in humans. «Ann. Hum. Genet.», 21, 123-131.
[51] ROBERTSON A. and HILL W.G. (1984) - Deviations from Hardy-Weinberg proportions: sampling variances and use in estimation of inbreeding coefficients. «Genetics», 107, 703-718.
[52] CROW J.F. (1958) - Some possibilities for measuring selection intensities in man. «Hum. Biol.», 30, 1-13.
[53] BECKER P.E. (ed.) (1975) - Humangenetik - Ein kurzes Handbuch in funf Banden. Band 1/3. Georg Thieme Verlag, Stuttgart.
[54] BECKER P.E. (ed.) (1972) - Humangenetik - Ein kurzes Handbuch in funf Banden. Band 1/4, Georg Thieme Verlag, Stuttgart.
[55] KARN M.N. and PENROSE L.S. (1951) - Birth weight and gestation time in relation to maternal age, parity and infant survival. «Ann. Eugenics», 16, 147-160.
[56] WARD R.D., SARFARAZI M., AZIMI-GARAKANI C. and BEARDMORE J.A. (1985) - Population genetics of polymorphisms in Cardiff newborn. «Hum. Hered.», 35, 171-177.

La collezione può essere raggiunta anche a partire da EuDML, la biblioteca digitale matematica europea, e da mini-DML, il progetto mini-DML sviluppato e mantenuto dalla cellula Math-Doc di Grenoble.

Per suggerimenti o per segnalare eventuali errori, scrivete a

logo MBACCon il contributo del Ministero per i Beni e le Attività Culturali