THE FREQUENCY IN JAPAN OF CARRIERS OF THE RARE “RECESSIVE” GENE CAUSING ACATALASEMIA
Open Access
- 30 November 1961
- journal article
- research article
- Published by American Society for Clinical Investigation in Journal of Clinical Investigation
- Vol. 40 (12) , 2199-2208
- https://doi.org/10.1172/jci104446
Abstract
A rapid and simple method for detection of hypocatalasemic heterozygotes for the gene responsible for acatalasemia is described. A total of 13, 647 blood specimens from individuals residing in Hiroshima and Nagasaki has been examined in this manner, and the frequency of hypocatalasemics was found to be 0.09 percent. Surveys in other parts of Japan have revealed frequencies of the order of 1.4 percent. This uneveness in the distribution of a rare recessive gene, taken in conjunction with the known variation from locality to locality in the frequency of inbreeding, has important implications for the interpretation of data on inbreeding effects. Some of these implications are discussed.Keywords
This publication has 9 references indexed in Scilit:
- HYPOCATALASEMIA: A NEW GENETIC CARRIER STATE*Journal of Clinical Investigation, 1960
- THE MUTATIONAL LOAD DUE TO DETRIMENTAL GENES IN MAN1960
- Carrier State in Human AcatalasemiaScience, 1959
- A NOTE ON DEAF MUTISMAnnals of Human Genetics, 1959
- Empirical risks in consanguineous marriages: sex ratio, malformation, and viability.1958
- AN ESTIMATE OF THE MUTATIONAL DAMAGE IN MAN FROM DATA ON CONSANGUINEOUS MARRIAGESProceedings of the National Academy of Sciences, 1956
- HEREDITARY DEAF MUTISM, WITH PARTICULAR REFERENCE TO NORTHERN IRELANDAnnals of Human Genetics, 1956
- THE INCIDENCE OF CONSANGUINEOUS MATINGS IN JAPAN - WITH REMARKS ON THE ESTIMATION OF COMPARATIVE GENE FREQUENCIES AND THE EXPECTED RATE OF APPEARANCE OF INDUCED RECESSIVE MUTATIONS1949
- The Effects of Isolates on the Frequency of a Rare Human GeneProceedings of the National Academy of Sciences, 1947