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We posit that chance plays a major role in the occurrence of many common malformations that cluster in families but recur less frequently than expected for simple Mendelian traits. Once the role of random effects is accepted, the segregation of such malformations may be explained on the basis of Mendelian transmission of a single abnormal gene that predisposes to, but does not always result in, the abnormal phenotype. We apply a stochastic (probabilistic) single-gene model to the occurrence of malformations in mouse and man. The stochastic single-gene model suggests the feasibility of isolating individual genes that determine morphogenesis and sets limits on the precision with which the recurrence of malformations can be predicted. 相似文献
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J M Friedman 《American journal of human genetics》1997,60(3):469-473
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Hrvoje Petkovi? John Cullum Daslav Hranueli Iain S Hunter Natasa Peri?-Concha Jasenka Pigac Arinthip Thamchaipenet Dusica Vujaklija Paul F Long 《Microbiology and molecular biology reviews》2006,70(3):704-728
From a genetic standpoint, Streptomyces rimosus is arguably the best-characterized industrial streptomycete as the producer of oxytetracycline and other tetracycline antibiotics. Although resistance to these antibiotics has reduced their clinical use in recent years, tetracyclines have an increasing role in the treatment of emerging infections and noninfective diseases. Procedures for in vivo and in vitro genetic manipulations in S. rimosus have been developed since the 1950s and applied to study the genetic instability of S. rimosus strains and for the molecular cloning and characterization of genes involved in oxytetracycline biosynthesis. Recent advances in the methodology of genome sequencing bring the realistic prospect of obtaining the genome sequence of S. rimosus in the near term. 相似文献
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V A Saunders 《Microbiological reviews》1978,42(2):357-384
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B W Holloway 《Microbiology and molecular biology reviews》1969,33(3):419-443
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Caroline Kirwan 《Human genetics》2010,128(5):563-563
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Adele Rowden Ashley Robertson Theodore Allnutt Sylvia Heredia Guadalupe Williams-Linera Adrian C. Newton 《Conservation Genetics》2004,5(4):475-484
Fagus grandifolia var. mexicana(Fagaceae) is a Mexican endemic tree, currently threatened with extinction. In order to assess the level and structure of genetic variation in four remaining populations, leaf samples were analysed using random amplified polymorphic DNA (RAPD) and cpDNA PCR-RFLP markers. A sample of the more widespread congener, F. grandifoliavar. grandifolia from the USA was also analysed for comparison. Thirty-three polymorphic RAPD bands were produced using 18 10-mer primers. AMOVA of RAPD data indicated significant (P < 0.002) population differentiation, with 15.6% of variation recorded between Mexican populations. PCR-RFLP analysis enabled three cpDNA haplotypes to be identified, denoted types A, B, and C. Types A and B were each restricted to an individual Mexican population, whereas Type C was fixed for two Mexican populations, and the population from the USA. Within-population genetic variation, quantified as percentage polymorphic bands, Shannon's Diversity Index and Nei's gene diversity measure, was found to be lower in Mexican populations than in that from the USA, and was positively related to population size. These results suggest that an unexpectedly high degree of genetic variation exists within Mexican beech, and this variation should be considered in developing the conservation strategy that is urgently required if extinction of this taxon is to be prevented. 相似文献