questions - hepatology2014

[ArchivalUser]

An 11-month-old girl was seen by doctor because of developmental delay

her parents reported that she sat only briefly and then flopped over and that
she had stopped reaching for objects and feeding herself from month9.She did not crawl or pull to stand..

whole genome sequence was ordered and results showed X gene had the following mutation:

From Normal:.... ATA TCC TAT GCC CCT GAC ...........

To Abnormal:......ATA TCt atc CTA TGC CCC TGA C.........




!.What type of this mutation:

A.Silent Mutation

B.Conservative Mutation

C.Nonsense Mutation

D.Frameshift mutation

E.Splice Site Mutation




Very low leukocyte hexosaminidase A activity
(3.2%; normal range, >50.0%) was confirm in the patient.

2.What the following is mostly likely seen in this patient relevant cells:

A.high level of Galactocerebroside

B.High level of Sphingomyelin

C.High level of Mucopolysaccharide

D.High level Glucocerebroside

E.High level Gangliosidosis




ophthalmologic examination showed red spot in the macula.which of the following statement can explain this

A. the elevated Substrate get into inside ganglion cells in the red pot

B.The elevated substrate was swollen by the macrophage

C. the elevated substrate get inside the ganglion cells around the red pot

D.The elevated substrate was dumped in the Interstitial space

E.The elevated substrate get into blood circulation

[ArchivalUser]

1)D. frameshift mutation
2)E .ganglioside
3) ??? Not sure