“I feel very strongly that early detection is important,” he says, when it comes to carrier status.
If routine screening of newborn boys for Duchenne were to be adopted, one helpful outcome would be women learning about their carrier status earlier, Smith notes. Since most women who are carriers of a Duchenne mutation don’t know it, they learn this only if they have a son with Duchenne.
Smith says, that’s because Duchenne is a rare disease, and there isn’t anything that can be done about a girl or woman’s status as a carrier even if it’s discovered. Right now, testing for carrier status in girls or women is not routinely done unless there is a family history of Duchenne. A daughter with the mutation will also be a carrier, while a son with the mutation will have Duchenne. When a woman has a Duchenne mutation, there is a 50 percent chance that she’ll pass it to either a daughter or a son. Smith, MD, a pediatric neurologist at Duke University’s Lenox Baker Children’s Hospital in Durham, North Carolina. “For a male, if he has a mutation on a gene on the X chromosome, it’s generally more severe than in females, because the male doesn’t have a backup copy on the other X chromosome,” explains Edward C. Females have two X chromosomes, while males have one X and one Y chromosome. That’s because the gene responsible for the protein dystrophin - where the mutation occurs - is located on the X chromosome, one of the two sex chromosomes in humans. Women who are carriers of a genetic mutation that can cause Duchenne generally won’t have any overt signs of this status.
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