Full Answer
Expressivity is the extent of variation in phenotype associated with a particular genotype. If expressivity of a disease is variable, then the penetrance may be complete but the severity of the disease can vary greatly. A well-known example of variable expressivity in an autosomal dominant disease is type 1 neurofibromatosis. The correct option is the only one that accurately describes the presence of varying degrees of symptomatologic characteristics.
The fragile X syndrome is the second most common genetic cause of mental retardation (after Down syndrome). The correct option is not observed with enough frequency to be recognized as the second most common cause of mental retardation.
A disorder in the chromosome (47, XXY karyotype) results in a disorder known as Klinefelter syndrome. The correct option is the only one that accurately describes a genetic disorder that exhibits the described genetic configuration.
This gene is known as a tumor-suppressor gene; the normal function of its protein product is to regulate the cell cycle so that cells do not grow uncontrollably. The correct option is the only one that accurately identifies a disease resulting from a mutation of the tumor-suppressor gene .
In most cases of recessive disease, both parents of affected individuals are heterozygous carriers.
When the heterozygote is distinguishable from both homozygotes, the locus is said to exhibit codominance. An example is the ABO blood group, in which heterozygotes having the A and B alleles express both of them as A and B antigens on their red cells (forming blood group AB). The correct option is the only one that accurately describes codominance.
Consanguinity is often an important characteristic of pedigrees for recessive diseases; relatives share a certain proportion of genes received from a common ancestor. The correct option is the only one that accurately identifies a required factor in autosomal recessive genetic inheritance.
Expressivity is the extent of variation in phenotype associated with a particular genotype. If expressivity of a disease is variable, then the penetrance may be complete but the severity of the disease can vary greatly. A well-known example of variable expressivity in an autosomal dominant disease is type 1 neurofibromatosis. The correct option is the only one that accurately describes the presence of varying degrees of symptomatologic characteristics.
The fragile X syndrome is the second most common genetic cause of mental retardation (after Down syndrome). The correct option is not observed with enough frequency to be recognized as the second most common cause of mental retardation.
A disorder in the chromosome (47, XXY karyotype) results in a disorder known as Klinefelter syndrome. The correct option is the only one that accurately describes a genetic disorder that exhibits the described genetic configuration.
This gene is known as a tumor-suppressor gene; the normal function of its protein product is to regulate the cell cycle so that cells do not grow uncontrollably. The correct option is the only one that accurately identifies a disease resulting from a mutation of the tumor-suppressor gene .
In most cases of recessive disease, both parents of affected individuals are heterozygous carriers.
When the heterozygote is distinguishable from both homozygotes, the locus is said to exhibit codominance. An example is the ABO blood group, in which heterozygotes having the A and B alleles express both of them as A and B antigens on their red cells (forming blood group AB). The correct option is the only one that accurately describes codominance.
Consanguinity is often an important characteristic of pedigrees for recessive diseases; relatives share a certain proportion of genes received from a common ancestor. The correct option is the only one that accurately identifies a required factor in autosomal recessive genetic inheritance.