Author Institution: The University of Oklahoma, Norman, Oklahoma; Department of Medicine, Washington University, and Barnes Hospital, St. Loui

Clarke, Helen

Moore, Carl V.

Snyder, Laurence H.

The Ohio Journal of Science

KnowledgeBank at OSU

STUDIES IN HUMAN INHERITANCE XXXIV.FURTHER DATA ON THE LINKAGE OP THE GENES FORSICKLE CELLS AND THE M-N BLOOD TYPESLAURENCE H. SNYDER, HELEN CLARKE AND CARL V. MOOREThe University of Oklahoma, Norman, Oklahoma; Department of Medicine,Washington University, and Barnes Hospital, St. LouisThe demonstration of linkage between human genes has long been an ideal oflaboratories of human genetics. Many studies have been made along this line,mostly with negative results. A few instances of probable linkage have beenreported (Penrose, 1935; Haldane, 1936; Burks, 1937; Rife, 1941, Hoogvliet, 1942;Snyder and Palmer, 1943; Kallis and Schweitzer, 1943; Penrose, 1946; Kloepfer,1946), but these have largely involved either sex-linked characters or variabletraits, the exact hereditary nature of which is not known. For a comprehensivesummary of the linkage studies carried out to date, see Kloepfer, 1946.Recently we presented evidence for the first instance of autosomal linkageinvolving proved unit factors (Snyder, Russell and Graham, 1947). Both couplingand repulsion phases were demonstrated. This discovery was of sufficient impor-tance to warrant the intensive search for more data. We have therefore concen-trated our attention on the obtaining of families showing the sickle cell trait, inwhich the sickle cell parent was type MN. We have found a number of suchfamilies, and some of them are of suitable nature to provide linkage data. Theadditional families uphold the hypothesis that the genes for sickle cells and for theM-N types are linked, and that the gene for sickle cells is transmitted independentlyof the genes for the A-B groups and the Rh types.The complete data, including those of Snyder, Russell and Graham, arepresented below. For the association between sickle cells and the M-N types(Table I), the total score (summation of X) is seen to be 12.72, with a varianceTABLE ILINKAGE DATA ON THE GENES FOR SICKLE CELLS AND THE M-N BLOOD TYPESFinneyType3444418181818FamilyNumber3078111737383940a231101130b000211001c000101402d01201011071.006.003.000.00—1.00—0.11—0.783.830.7812.72K1.0006.0003.0006.0001.0000.5491.9870.9410.54921.026(summation of K) of 21.026. Since the total score exceeds 2.33 times the squareroot of the variance (12.72 exceeds 10.69), the evidence against the hypothesis ofrandom assortment is significant at the one percent level.The crossover percentage (c) may be estimated from the formula— Vi\ I — */ — ) » which gives a value of 0.111.32N o . 1 LINKAGE OF THE GENES FOR SICKLE CELLS AND M-N BLOOD TYPES 33For the record, the corresponding tables for the A-B blood groups and theRh types are also presented (Tables II and III), indicating the independenttransmission of these genes and the gene for sickle cells. In neither case does thetotal score even approach the square root of the variance.Finney's modifications of Fisher's methods were used throughout the analyses(Finney, 1940).TABLE IILINKAGE DATA ON THE GENES FOR SICKLE CELLS AND THE A-B BLOOD GROUPSFinneyType55555567777FamilyNumber115203034351636373839' a11212110121b11110110000c10102202132d202001021117—2.000—1.000—1.000—1.000—2.000—2.000—0.333—0.222—0.Ill—0.500—8.444—18.610K10.0001.00015.0001.0006.00010.0000.2381.3330.7782.7781.33349.460TABLE IIILINKAGE DATA ON THE GENES FOR SICKLE CELLS AND THE RH BLOOD TYPESFinneyType55555667778FamilyNumber5610123081638394036a10131113121b01101001201c11010012001d2000020011170.0001.000—1.0000.000—1.0001.666—0.111—0.555—1.3330.778—1.037—1.502K6.0003.0001.0006.0001.0000.5490.2382.7781.3330.7780.83623.512REFERENCESBurks, B. 1937. Yearbook Carnegie Inst., 36: 312.Finney, D. J. 1940. Ann. Eugen., 10: 171.Haldane, J. B. S. 1936. Ann. Eugen., 7: 28.Hoogvliet, B. 1942. Genetica, 23: 93.Kallis, N., and M. D. Schweitzer. 1943. Genetics, 28: 78.Kloepfer, H. W. 1946. Ann. Eugen., 13: 35.Penrose, L. S. 1935. Ann. Eugen., 6: 133; 1946 ibid., 13: 25.Rife, D. C. 1941. Science, 94: 187.Snyder, L. H., and D. M. Palmer. 1943. Jour. Hered., 34: 207.Snyder, L. H., H. Russell and E. B. Graham. 1947. Science, 106: 347.

Studies in Human Inheritance XXXIV. Further Data on the Linkage of the Genes for Sickle Cells and the M-N Blood Types

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Studies in Human Inheritance XXXIV. Further Data on the Linkage of the Genes for Sickle Cells and the M-N Blood Types

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