[Consanguinity and migration in Viña del Mar, Chile, 1888-1967 (author's transl)].
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The amount of inadvertent inbreeding as a result of donor anonymity in artificial insemination has been estimated. A child from a first-cousin mating or closer is expected approximately once every 41/2 years in the United States as a result of artificial insemination by donor. Since a child with unknown paternity seems less likely to mate with paternal relatives than is a child with known paternity, artificial insemination by donor may actually reduce the average inbreeding of the population. Nevertheless, to reduce recessive diseases, inbreeding should be kept to a minimum by limiting the number of children produced by a single donor. Formulas are presented for local risks of inbreeding based on the number of children per donor.
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The dependence of the load of autosomal recessive disorders on a variation of random inbreeding in the populations of the 9th Districts of the Kirov Province was investigated. The values of the Fst varied between different districts from 0.00021 to 0.0011 and the values of load of AR--from 0.73 to 2.01 affected per 1000. There is a close significant correlation (r = 0.90) between the parameters in the population studied which increased under analysis of the population considering the coefficients of random inbreeding.
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Familial gingival fibromatosis affecting six members among three generations of an Islamic family is reported. Clinical findings are reported and the inheritance pattern is discussed. Histopathologic examination of the excised tissue revealed mainly fibroblasts with prominent, rough-surfaced endoplasmic reticulum. Cells with vesicular nuclei, resembling mast cells, were also observed.
This is a continuation of a series of papers devoted to studying the genetic mechanisms of adaptation in migrants from isolated highland populations of Dagestan to new ecological conditions (lowlands). This paper describes the main results of studying the relationship between levels of inbreeding, homozygosity, and physiological sensitivity. Earlier, we found that decreased resistance to changing environmental factors in migrants to lowlands from the Dagestan highlands was connected with their high level of homozygosity. The data obtained allow us to assume that missing links in this chain of events include, in addition to parameters of inbreeding level, parameters of neurophysiological sensitivity, including absolute and differential sensitivity of various analyzers sensory systems, which are from 65 to 75% genetically determined. Migrants from highland auls (villages) to lowlands exhibited a decreased rate of sensomotor reactions in response to light and sound of various intensities, as well as decreased differential color sensitivity in the long-, medium-, and short-wave ranges of the spectrum, compared to highlanders. The results suggest the selective mortality of migrants from highlands to lowlands during adaptation to new conditions. Those migrants who dies were characterized by specific gene complexes that determined the characteristic features of expression of a number of interrelated polymorphic and quantitative traits. Thus, the high levels of homozygosity and inbreeding were accompanied by a greater neurophysiological sensitivity and lower indices of body weight and height.
An infant with a distinct set of skeletal anomalies was studied. The patient's main phenotypic features were short-limb dwarfism, craniofacial disproportion with prominent forehead, short neck and trunk with pectus carinatum, and platyspondyly, protuberant abdomen, acromesomelic shortness of limbs, bilateral palm simian crease, short feet with brachydactyly of the 2nd toe, and prominent heels. Differential diagnosis suggests that the case described had a previously unrecognized skeletal dysplasia. The fact that the parents were first cousins suggests a genetic, probably autosomal recessive etiology.