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By Cecelia M O'Connor; G E W Wolstenholme; International Union of Biological Sciences

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1956). ), 178, 1239. MOKR, 0. , and WRIEDT,C. (1919). A New Type of Hereditary Brachyphalangy in Man. Washington: Carnegie Inst. Pubn No. 295. MOTULSKY,A. G. (1959). Personal communication. NEEL,J. V. (1958). Amer. J . hum. , 10,398. (1909). Proc. roy. , 81, 219. PENROSE, L. S. Ann. hum. , 19, 10. PENROSE, L. S. (1954b). Ann. N . Y . Acad. , 57,494. REES,H. (1955). Proc. roy. , 144,150. RENWICK, J. (1956). Ann. hum. , 21, 159. B. (1954). Ann. hum. , 19, 262. , and BIANCO,I. (1959). Ciba Found.

The enzymic techniques permitted us to demonstrate in an unambiguous way that the defective enzyme in galactosaemia is indeed gal-1-P uridyl transferase; this was first demonstrated in lysates of erythrocytes (see Table I). , 1956). Although this observation did clarify a number of problems, we were far from a solution since we had raised some new problems. The following are a number of problems which were to some extent clarified by this observation. HEREDITARY GALACTOSAEMIA 27 I n view of the above discussion on the postnatal deposition of galactose in the brain, it is particularly noteworthy that 4-epimerase (Waldenase) is present in about the same amount in galactosaemics as in non-galactosaemics.

Experiments on the genesis of triplo IV in Drosophila may perhaps provide the best approach to the problem. In the remaining subgroup, about 22 per cent, the maternal age distribution does not differ from that in the general population but there is a slight risk of recurrence in the sibship. Exten1038 unrelected cases of mongolism. General Population. KEY: ----..... Maternal age-dependent sub-group __- (78%). -- -_-___ Sub-group with same maternal ages as in general population (22%). 1. Maternal age distributions.

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Biochemistry of human genetics by Cecelia M O'Connor; G E W Wolstenholme; International Union of Biological Sciences


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