Genotypic Distribution among Human Autosomal Aneuploids: A Theoretical Consideration

Saldanha, P. H.; Beçak, Willy

doi:10.1159/000151785

Cited by 3 publications

(3 citation statements)

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“…The theoretical basis for such differences was partially established by Sliaw and Gershoivitz (1962) and by Saldanha and Be<;ak (1963). Goodman (1965) has developed a more general treatment of the same problem.…”

Section: Introductionmentioning

confidence: 99%

Urinary Ammo Acid Excretion in Mongolism

King¹,

Goodman²,

Thomas³

1966

Hum Hered

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Section: Introductionmentioning

confidence: 99%

Urinary Ammo Acid Excretion in Mongolism

King¹,

Goodman²,

Thomas³

1966

Hum Hered

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“…There is already an extensive literature on the application of the phenotype shift to the investigation of the possible location of the blood group system on the trisomic 21st chromosome in Down's syndrome (Lang-Brown, Lawler & Penrose 1953, Bateman 1960& Becak 1963). The limitations of the use of blood group data for this purpose have been pointed out by Lawler (1964), for example in the ABO system in which there are four alleles Al, B,A2, and 0 of which At, A;!…”

mentioning

confidence: 99%

“…Literature on the models for the phenotype shift in Down's syndrome. Theoretical models for the distortion of the phenotype ratios in trisomy have, in part, been established (Bateman 1960, Shaw I& Gershowitz 1962, Saldanha & Becak 1963, with the latter two studies providing models for the shift in the case of a single pair of alleles showing dominance, lack of dominance and dosage effects, assuming that the non-disjunction arose at the first meiotic division and that the locus is absolutely linked to the centromere. Lawler (1964) pointed out that this simple concept becomes more complex if the non-disjunction occurs either in the second meiotic division or post-zygotically.…”

mentioning

confidence: 99%

Theoretical implications of the application of polymorphic protein systems to gene location on a trisomic chromosome, and its application to the haptoglobin phenotype frequencies in Down's syndrome

At¹

1973

Clinical Genetics

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In this, the first of a series of communications on the application of the study of polymorphic enzyme and protein systems to gene location on a trisomic chromosome, the theoretical implications are considered. Mathematical models for the expected phenotype shift have been examined, and have been expanded to include a three‐allele locus and a three‐allele locus with one allele being of the ‘silent’ variety. Some modifications in the existing mathematical models were necessary due to possible failure of electrophoretic and immuno‐electrophoretic separations to differentiate between some heterozygote forms. The mathematical models have been applied to a series of hi‐allelic polymorphic systems and one tri‐allelic system to determine the minimum number of subjets with trisomy that would be required to establish the presence or absence of a phenotype shift. The additional use of the techniques for estimating the position of the gene with respect to the centromere, and estimating the timing of the non‐disjunction are discussed. The application of Haldane's log ratio test (1956) involving the combining of the homozygous Corms is considered and applied to the phenotype data on the serum haptoglobins of 254 subjects with Down's syndrome and 853 mentally retarded control subjects.

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