Case Study Duchenne Muscular Dystrophy

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1 Name of your Genetic Disorder:

Duchenne muscular dystrophy (DMD)

2 Gene locus on which chromosome:

Gene locus on the short arm of the X chromosome named Xp21.

3 Type of disorder (autosomal, sex-linked, dominant, recessive, aneuploidy?):

DMD has an X-linked recessive inheritance pattern.

4 Symptoms of the disorder:

According to the National Human Genome Research Institute , generally, the symptoms of DMD appear between the age of 1 and 6. Since the age of one, the patient gradually began to have difficulties in standing and walking. The weakness of them legs and pelvic muscles will lead to waddling gait and difficult to move. And the bilateral gastrocnemius muscle will gradually tend to hypertrophy, the tendon reflex
…show more content…
A woman is a carrier of Duchenne muscular dystrophy (XAXa) and her husband is not Duchenne muscular dystrophy (XAY). What is the probability their child will be duchenne muscular dystrophy?

9 Provide the solution to your problem. Include text and/or a Punnett square table explaining your solution.Include the appropriate probabilities.

Answer: 25%

Mother Father

XA

Y

XA

XAXA

XAY

Xa

XAXa

XaY

Because DMD is a sex-linked recessive disorder, the only chance their child will have this disease is a boy with Xa. The type of woman carrier must be XAXA, a man without DMD is XAY. Therefore, the probability their child would be DMD is 25%

10 Reference Link(s), citations, and explanation of relevance to your discussion of the disorder you have chosen.

In this website, the national human genome research institute provides many information about Duchenne muscular dystrophy. First of all, it helps me to understand the basic information about DMD. Second, it informed me what are the symptoms and diagnoses of DMD. Moreover, it provides a link that talked about the parent project for muscular dystrophy research, which really helpful for the in-depth study of the genetic

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