September 26, 2012
Name: Victory Obiefuna TA’s name: Amanda Pisio
Bioinformatics Assignment – Answer Sheet
This assignment is due at the beginning of lab one week from today. Please remember that it is an
individual assignment – you are to work on your topic by yourself and hand in a single, hard copy of
your answer sheet. You may use these pages to complete the assignment. Alternatively, you can get
an electronic copy of the answer sheet on the lab webpage.
1. Common name of genetic condition: Rett Syndrome
2. Provide a complete description of the symptoms (phenotype) of the condition. You must include
both physiological and physical descriptions of the disease along with providing the prevalence of the
disease. In regards to prevalence, it is sufficient to state the incidence of the disease in a group or
geographical region (i.e.: race, religious denomination, country, etc.) if a global figure is not available.
Rett syndrome is an autism spectrum disorder that only occurs in females. The people who are affected
by this condition experience difficulty when interacting with others, lack the ability to communicate
through language, and have strange, repetitive hand movements. Usually, the evidence of the
syndrome begins to appear after 5 months to 4 years of normal development, after which the head
stops growing as quickly and the language and social skills worsen. Seizures are also common in those
affected. As the child gets older, some of the social interactions issues may become less apparent.
However, the language issues get progressively worse throughout the child’s life.
3. What pattern of inheritance does your genetic disease show? Circle one. (1)
Autosomal recessive Autosomal dominant Y-linked
X-linked recessive X-linked dominant
4. Provide the name of a single gene that directly leads or contributes to an increased chance of
acquiring the condition. (2)
Full name: Methyl-CpG-binding protein 2
5. Where is this gene located in the human genome? Name the gene’s locus. (1)
Locus: The gene is located on the X chromosome at the locus Xq28. September 26, 2012
6. Very briefly, describe the normal (wild-type) or suspected function of the gene. (2)
MECPS is a protein that associates with chromatin and helps to regulate the transcription of DNA. The
normal allele of this gene is required for neurons to mature properly.
7. Describe, using terms learned in biology 207, the first allele listed in the “Allelic Variant” section.
This is generally, but not necessarily, a mutant allele. (1)
The zappella variant of the MECP2 gene comes about after the amino acid substitution of arginine for