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Rudolph syndrome (red noses) end Ed syndrome (short stature, pointy ears) are ca

ID: 176916 • Letter: R

Question

Rudolph syndrome (red noses) end Ed syndrome (short stature, pointy ears) are caused by defects at a locus on chromosome 7 that contains toe Green and Xmas genes, the locus a known to be imprinted Children with Rudolph syndrome typically have a deletion in the Xmas gene merited from their father. children with Ed syndrome typically have a deletion n the Green gene merited from their mother, Which gone a not maternally expressed? Liam has Ed syndrome FISH analysis identifies two chromosome 7s - no deletion was present Further genetic testing was performed on DNA from Lam and both his parents and showed that Lam inherited two chromosome 7s from one parent and none from the other. From with parent did Lam inhelt his chromosome 7s? Mitochondrial DMA (mtDNA) Describe the inheritance pattern for mtDNA mutations Draw a pedigree illustrating the inheritance pattern Individuals carrying the same pathogenic mtDNA mutations can show a wide array of symptoms from asymptomatic to severely affected Different tissues from a mtDNA mutation carrying symptomatic individual can show a wide array of disease pathology from unaffected to affected How can you explain these observations?

Explanation / Answer

question 3:

Mitochondria contain 2 sorts of hereditary material:

1. mitochondrial DNA, which must be passed on from the mother

2 .nuclear DNA, which is passed on from both parents

In the accompanying segments are recorded the ways that Mitochondrial malady can be acquired:

Maternal inheritance

A mother with a mitochondrial DNA genes change will pass this anomalous alleleto every last bit of her youngsters. The youngsters will all be influenced, with various degrees of seriousness. This is called maternal legacy.

This does not imply that the kids will be influenced in an indistinguishable route from their mom. It is unrealistic to anticipate how the youngsters will be influenced.

The atomic DNA in mitochondria is acquired from both guardians (half from every parent). Mitochondrial sickness can be passed on just if BOTH the mother and father are "transporters". This implies they convey the transformed quality, however not the malady – so they don't have any indications. This is called autosomal latent legacy.

At the point when both guardians are bearers, there is

a 25% possibility of having a child with the infection

a half possibility of having a child who is a bearer like the guardians (has the transformation, yet not the ailment)

a 25% possibility of having a child that is not a bearer and does not

have the malady

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In the event that one parent has an overwhelming atomic DNA quality change, this anomalous quality will be passed on to half of his or her kids. In the event that the other parent has typical atomic DNA, the kids will acquire an ordinary atomic DNA quality from him or her.