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step 1: initiation

initiation is the beginning of transcription. it occurs when the enzyme rna polymerase binds to a region of a gene called the promoter. this signals the dna to unwind so the enzyme can ‘‘read’’ the bases in one of the dna strands. the enzyme is now ready to make a strand of mrna with a complementary sequence of bases.

step 2: elongation

elongation is the addition of nucleotides to the mrna strand. rna polymerase reads the unwound dna strand and builds the mrna molecule, using complementary base pairs. there is a brief time during this process when the newly formed rna is bound to the unwound dna. during this process, an adenine (a) in the dna binds to an uracil (u) in the rna.

step 3: termination

termination is the ending of transcription, and occurs when rna polymerase crosses a stop (termination) sequence in the gene. the mrna strand is complete, and it detaches from dna.

an individual’s sex (i.e., whether they are a male or female) is determined by the sex chromosomes. most people have two sex chromosomes, one that is inherited from their mother and one that is inherited from their father. typically, females have two x chromosomes (xx) and males have one x chromosome and one y chromosome (xy). conditions caused by changes (“mutations”) in genes located on the x chromosome are considered x-linked.

x-linked recessive inheritance

most x-linked conditions are recessive. this means that in a person with two x chromosomes (most females), both copies of a gene (i.e., one on each x chromosome) must have a change or mutation whereas in a person with one x chromosome (most males), only one copy of a gene must have a mutation. a female with a mutation in one copy of a gene on the x chromosome is said to be a “carrier” for an x-linked condition. a male with a mutation in a gene on the x chromosome is typically affected with the condition. because females have two copies of the x chromosome and males have only one x chromosome, x-linked recessive diseases are more common among males than females. however, x-linked recessive diseases can occur in both males and females.

for x-linked recessive disorders, an unaffected carrier mother who has a mutation in a gene on the x chromosome can transmit either the x chromosome with this mutation or a “normal” x chromosome to her children. if the father is unaffected, none of her daughters will be affected and all of her daughters will be unaffected—since they will inherit at least one normal x chromosome from their father. however, each daughter will have a 50% chance of being an unaffected carrier like her mother and a 50% chance of both x chromosomes being normal.