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Tay Sachs disease and phenylketonuria are examples of?
Tay Sachs disease and phenylketonuria (PKU) are examples of genetic disorders caused by mutations in specific genes. Tay Sachs is a fatal neurological disorder caused by a deficiency in the enzyme hexosaminidase A, while PKU is a metabolic disorder resulting from a deficiency in the enzyme phenylalanine hydroxylase. Both conditions follow an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene to exhibit symptoms. Early diagnosis and intervention can help manage these conditions.
What causes Fabry's disease?
Fabry's disease has an X-linked, recessive pattern of inheritance, meaning that the defective gene is carried on the X chromosome.
What causes Wolman's disease?
Wolman's disease is caused by a genetic defect (with a recessive pattern of inheritance) that results in deficiency of an enzyme that breaks down cholesterol.
What populations are affected by Refsum's disease?
Refsum's disease has a recessive pattern of inheritance and affects populations from Northern Europe, particularly Scandinavians most frequently.
Gaucher disease is caused by what genetic disorder?
Gaucher disease has a recessive pattern of inheritance, meaning that a person must inherit a copy of the defective gene from both parents in order to have the disease.
What is the genotype of the mother in the Huntington disease having a dominant of DD or Dd inheritance pattern?
In Huntington's disease, which follows a dominant inheritance pattern, the mother's genotype could either be homozygous dominant (DD) or heterozygous (Dd). If she has the disease, she must have at least one dominant allele, so her genotype cannot be homozygous recessive (dd). Therefore, her possible genotypes are DD or Dd, which both indicate she has the potential to pass the disease on to her offspring.
What does a genetic counselor construct to show the inheritance pattern of a genetic disorder within a family?
Its a pedigree. A pedigree shows the inheritance of a genetic disorder within a family and can help to determine the inheritance pattern and whether any particular individual has an allele for that disorder.
What is the incidence of Krabbe's disease in live births in the United States?
It has a recessive pattern of inheritance and is believed to occur in 1 of 40,000 births in the United States.
Is the inheritance pattern of the BRCA1 gene dominant or recessive?
The inheritance pattern of the BRCA1 gene is dominant.
Is hirschsprung's disease dominant or recessive?
Hirschsprung's disease is typically non-Mendelian in inheritance, meaning it does not follow a simple dominant or recessive pattern. It is commonly associated with complex inheritance involving multiple genetic and environmental factors.
Who is the man who discovered the pattern of genetic inheritance?
Gregor Johann Mendel is credited with discovering the pattern of genetic inheritance
What is A herterozygous individual who has one allele for a disease but is not affected by it?
A heterozygous individual who has one allele for a disease but is not affected by it is considered a carrier. Carriers can pass the disease allele to their offspring but do not exhibit the symptoms themselves. This is common in genetic disorders that follow a recessive inheritance pattern.
