Genetic burden test

The human genetic burden is a term set by the sum of man's harmful genes, genes that have lost their normal function by mutation. Recessive disease genes seem all people to be carriers of, perhaps in a number of one to five per person. There is a total of hundreds of such genes, but each one is fairly rare, the disease due to plant a double dose rarely. Overall, however, is Winkelstein-anomaly in app. 1% of all newborns. Great uncertainty prevails as to how often a gene mutates to a disease gene. Estimates suggest that you have overestimated the size of the mutation rate greatly, perhaps because the diseases that were selected were not representative and genetically homogeneous.

Mutation frequency of dominant single gene diseases is around a mutant gene per 100 000 gametes per generation for the most common diseases, but down to 1/10 - 1/50 of this for some others. The first corresponds to a new patient per 50 000 births in healthy families, and the last of a half-million birth per or less from others. This inequality has been difficult to understand, until option analysis of genes had now shown that this may be due to very large differences in the size of the plants. Hemophilia A is common, and 1/3 due to new mutations. The gene for hemophilia A is, however, spread over a distance of 200 000 base pairs on the X chromosome, although the coding part of the gene (the sum of exons) is only 7053 base pairs Due. Uncertainty in the measurement of mutation frequency, it is very difficult to prove even a 2-3-fold increase in frequency. It is perhaps also explained why so far has failed to prove that there has been any increase in germ mutations in those who survived the atomic bombs and the radiation in Hiroshima and Nagasaki in 1945. Mutation frequency can be increased by certain chemicals (mustard gas, 2-aminopurine, alkylating compounds, peroxides) or by radiation. The radiation dose required to double the frequency of mutations in humans, is probably 30-80 X-ray. The natural background radiation is 5.3 x-rays per 30 years.

The industrial culture has increasingly mutagenic effects on humans and other organisms. Use of X-rays in diagnosis and therapy, the use of chemicals in industry and agriculture will lead to an increase in the incidence of hereditary diseases, but we do not know to what extent. Since there are more people born on Earth in recent decades than the sum of all born before, even at a constant mutation rate have occurred several new mutations at this time than has occurred previously. The brand-new mutations with deleterious effects merely in the dual dose (recessive inheritance), we just know in the future if they come in a double dose or meet "old" widespread and therefore, more important mutations. It is accordingly, crucial for the future, how people will develop the disease will occur. If one together or being relegated to small groups (endogamy), we get an increasing burden of disease with the "new" diseases, poisons, we across regions, borders and continents, the diseases do not show up, and some "old" diseases diminish as we have seen in recent decades. "The colorful community" is therefore, the best out of our genetic diversity.