FG syndrome is an X-linked recessive condition in which mental retardation is associated with congenital hypotonia, macrocephaly, characteristic face, and constipation. This syndrome was mapped by ...Zhu et al. Cytogenet Cell Genet 1991;58:2091A to Xq21.31-q22 by linkage analysis with a max lod score of 1.2 for the DXYS1X, DXS178, DXS101, and DXS94 loci and crossovers at DXS16 (Xp22.31) and DXS287 (Xq22.3). However, this mapping was only provisional and needed to be refined. In this paper, we report the results of a new linkage analysis performed on 10 families including that studied by Zhu et al. 1991. Two-point analysis demonstrated linkage with DXS441 (Zmax = 3.39 at theta = 0.12) at Xq13. In addition, separate analysis of the lod scores obtained for the Xq13 markers suggested linkage exclusion for three families. Genetic heterogeneity was confirmed by analysis of the linkage results with the HOMOG program (max logL = 4.07, theta = 0, alpha = 0.65). Localization of one FG gene between DXS135 and DXS1066 was suggested by analysis of crossovers found in those three families which were assumed to be linked to Xq13 with a probability of 0.95 or more. This region could be reduced to the DXS135-DXS72 interval after combining our data with those from deletions previously described in males in the Xq13-q21 region.
Pedigrees were obtained on 43 patients with confirmed Leber congenital amaurosis, a rare form of blindness caused by congenital dysfunction of the retina. All of the pedigrees were consistent with ...autosomal recessive inheritance and the segregation frequency using classical segregation analysis was 0.24 +/- 0.07. Six of the 7 affected sib pairs were concordant in regards to systemic abnormalities. Despite previous reports that Leber congenital amaurosis can be inherited either as an autosomal dominant or recessive condition, our findings support only an autosomal recessive inheritance of this disorder.
Observations on the adjustment of the human body to muscular work Mackeith, N. W.; Pembrey, Marcus Seymour; Spurrell, W. R. ...
Proceedings of the Royal Society of London. Series B, Containing papers of a biological character,
12/1923, Letnik:
95, Številka:
670
Journal Article
Odprti dostop
Introduction.—It has long been known that the dyspnœa produced by strenuous exercise, such as running or rowing, disappears if the work is continued and is replaced by a sense of great relief, the ...so-called “second wind.” A certain time is necessary for the adjustment or accommodation which produces this sensation; short-distance runners do not experience it, but those who are accustomed to long runs over the same course can predict at which lap or point they will obtain the relief of second wind. There are also individual differences; in some men the sensation is very definite, in others so indefinite that it is unrecognised. The observations of Cook and Pembrey showed that during dyspnœa the percentage of carbon dioxide in the alveolar air was raised above the resting value and the respiratory quotient was unity or above unity, but daring the hyperpnœa following the onset of second wind the percentage of carbon dioxide and the respiratory quotient fell; the amount of air breathed per minute was less during hyperpnœa than during dyspnœa; the rectal temperature showed a rise of about 1° F. during second wind, and as a rule there was a close association between the onset of sweating and second wind. Carbon dioxide appeared to be the chief factor in the adjustment of the respiratory and circulatory systems to the demands of the muscles for an adequate supply of blood.
PDF