Section 15 — Human Genetics 



(b) that human urine from both salivary 

 ABH secretors and salivary ABH non- 

 secretors inhibits anti-Le a ( 1 ) 



(c) the blood group substance A, B, H and 

 Lewis (a) purified from human pseudo- 

 mucinous ovarian cysts have a molecular 

 weight of about 300,000 



This present communication presents data in- 

 cluding the following: 



(a) that the Le a property in human urine is 

 due to the presence of a freely diffusible oligo- 

 saccharide. This is found in urine from both 

 salivary ABH secretors and salivary ABH non- 

 secretors. 



(b) this diffusible Le a haptene is not present in 

 saliva. 



(c) the haptene in the urine of salivary ABH 

 non-secretors is capable of "coating" Le (a-) 

 erythrocytes, so changing them to Le (a + ) 

 Some implications of these findings will be dis- 

 cussed. 



1. Watkins, W. M. and Morgan, W. T. J. 

 (1957) Specific inhibition studies relating to 

 the Lewis blood-group system. Nature, 180, 

 1038-1040. 



2. McConnell, R. B. (1961) Lewis blood group 

 substance in body fluids. Proc. 2nd Internat. 

 Conference of Human Genetics, Rome (in 

 press). 



3. Morgan, W. T. J. (1954). The chemical 

 basis of blood group specificity in man. 

 Lectures on the Scientific Basis of Medicine 

 IV, 92-111. 



15.73. Normal Variation in Excreted Amino Acids in 

 Man, Herman M. Slatis (Argonne, U.S.A.). 



Paper chromatography has been used in the 

 investigation of amino acids and other ninhy- 

 drin-positive substances in the urine of over 

 2500 persons. Other characteristics that are 

 known for these individuals include height, 

 weight, age, sex, blood type, and ancestry. The 

 statistical analysis of the chromatographic data 

 has been based on the ranking of each spot ac- 

 cording to density, rather than by the usual 

 practice of expressing the concentration of 

 each substance in terms of some supposedly 

 standard constituent of the urine. About 20 sepa- 

 rate spots were measured on most of the chroma- 

 tograms. 



A number of interrelationships have been 

 observed between the various chromatogram 

 spots. There is no correlation of any of these 

 spots with height or weight but there are correla- 



tions with the specific gravity of the urine. The re- 

 lationships do not seem to shift according to 

 height, weight, age, sex, ABO blood type, or 

 Rh blood type. 



Most of the persons observed were of Euro- 

 pean ancestry. The various ancestry groups with- 

 in Europe do not appear to differ from each 

 other in significant ways. The non-Europeans 

 were too few in number to permit an adequate 

 analysis of possible differences, although some 

 suggestive trends were observed. 



Work supported by U.S. Atomic Energy 

 Commission. 



15.74. Genetic and Biochemical Aspects of Sickle 

 Cell Dactylitis. W. G. Thurman and 

 W. Lorraine Watkins (New York, U.S.A.). 



Sickle cell dactylitis or the "hand-foot" 

 syndrome is an infrequent complication of 

 homozygous S hemoglobin disease. In the popu- 

 lation groups we have observed over 30 cases 

 of this syndrome. 



Family studies indicate that this syndrome has 

 a high incidence within the same family group 

 should more than one sibling have homozygous 

 S hemoglobin. Four families have been studied 

 in which three siblings have been affected; one 

 has been studied in which four children have had 

 orthopedic difficulties. Possible gene penetrance 

 as related to male or female "carriers" have been 

 studied in two families in whom siblings have 

 had one common parent with subsequent mat- 

 ing with another parent, also with AS hemo- 

 globin; comparisons of siblings from the first 

 mating with siblings of the second mating that 

 have also developed the syndrome have been 

 made. The relationship of siblings with this 

 syndrome to abortions in the mother before or 

 after the affected pregnancy has also been 

 studied. 



Fragilities, serum iron studies, alkaline and 

 acid phosphatase determinations, chloride, cal- 

 cium and phosphorus levels, fetal hemoglobin 

 studies, relation to infectious processes in other 

 organ systems and incidence of superimposed 

 infection in affected joints have all been 

 tabulated. 



15.75. The Chemical Structure of Hemoglobim 

 Lepore and its Interpretation as the Result of 

 Non-homologous Crossing-over. C. Baglioni 

 (Naples, Italy). 



Three samples of hemoglobin Lepore, ob- 



294 



