There are two genetic disorders that result from mutation in imprinted genes: Prader-Willi syndrome and Angelman syndrome.  Prader-Willi syndrome results from deletion of region 15q11-q13, which in healthy individuals is a region imprinted such that only the paternal copy is expressed. In the pedigree above, individual I-1 is heterozygous for a deletion of region 15q11-q13 and does not have Prader-Willi syndrome.  Individuals I-2 and II-1 are both homozygous wild type for the region.  Which individuals in the pedigree might have Prader-Willi syndrome? (Who could potentially have the syndrome, based on what alleles it is possible for them to inherit and express?)   Question 9 options:   Only II-2 could have Prader-Willi syndrome   III-1 could have Prader-Willi syndrome in the presented pedigree; II-2 could only have had it if she were male   Both II-2 and III-1 could have Prader-Willi syndrome   II-2 could have Prader-Willi syndrome only if I-2 were also heterozygous   No one in the pedigree could have Prader-Willi syndrome

Below is a pedigree of a family with a history of Best disease (or vitelliform macular dystrophy). All members of this family underwent ASO testing using two different oligonucleotides (ASO 1 and ASO 2): one that hybridizes to the only known mutation that leads to Best disease and one that hybridizes to the wild-type gene sequence in the same region. From the information you have, how is Best disease most likely inherited? 1. II. III. 0 0 0 0 0 1 ? autosomal dominant autosomal recessive x-linked recessive x-linked dominant you cannot determine ASO 1 ASO 2 1-1 1-2 II-1 11-2 11-3

In mice, the trait for high cholesterol is specified by a dominant allele designated HC, whereas the wild-type allele for normal cholesterol levels is designated hc. Black fur is specified by a recessive allele designated bl, whereas the wild-type allele which gives brown fur is designated BL. The genes for both of these traits are 30cM apart on the same autosome. A brown female (#1) with high cholesterol is mated to a black male (#2) with normal cholesterol. The progeny from this cross include a brown male (#3) with high cholesterol and a black female (#4) with normal cholesterol. What is the probability that the black mouse in the progeny of the first cross will also have high cholesterol?

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder that presents in newborns, typically within the first 48 hours after birth. As the name suggests, a key indicator of the disease is the presence of a sweet odor in the urine that smells like maple syrup. Left untreated, MSUD can result in failure of central neurological function and the respiratory system and can be fatal. MSUD is caused by mutations in components of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC). These mutations result in the inability for cells to break down branched-chain amino acids (BCAAs). BCAAs and their byproducts accumulate and are excreted in the urine, giving rise to the maple syrup scent.   QUESTIONS: Draw the structures of the three branched-chain amino acids (BCAA). Draw the structures of the three BCAA products released by functional BCKDC. Indicate the original amino acid.

There are a small number of genes in which the maternal or paternal copy that an organism inherits is methylated. In one case in mice there are known mutations in the gene. If a mouse inherits a mutated gene from its mother, the mouse is normal. However, if the mouse inherits a mutated gene from its father, the mouse is much smaller than normal. Based on this information which allele is normally methylated, the paternal allele or the maternal allele? Explain your reasoning.

For a particular gene, homozygous dominant AA and heterozygous Aa individuals produce green pigment, while homozygous recessive aa individuals produce yellow pigment. During the course of your research you discover the a1 allele that contains a class IlI transposon insertion. Allele A is dominant to a1. Which genotype is capable of producing a mixture of green and yellow pigment?

Duchenne Muscular Dystrophy (DMD) is a disorder that primarily affects the function of skeletal muscles used for movement and cardiac muscles used for heart beating.  Dystrophin is a protein encoded by a single gene, DMD, that is expressed in skeletal and cardiac muscle.  Some forms of muscular dystrophy may be caused by different mutations in the DNA sequence of the DMD gene.  Because the DMD locus is on the X chromosome, males are affected at higher rates. Two brothers, one of whom has DMD and one of whom does not, worked with their genetic counselor (Links to an external site.) to have their DMD gene sequenced to identify genetic variation that may explain why one brother was affected and the other not. Because DMD is a very long gene, a fictionalized, simplified model of the results is presented here (Figure 1).  The actual DMD mRNA is about 16,000 base-pairs!------Consider single nucleotide polymorphism (SNP) #1 (Figure 1).  Is this mutation likely to cause Duchenne muscular…

A defective gene on chromosome 15 causes Tay-Sachs disease. It is a central nervous system neurodegenerative disease that most often affects infants, though older children and adults can have late-onset forms of the disease. The defective gene prevents the body from making a protein called hexosaminidase A. Without, hexosaminidase A, chemicals called gangliosides build up in the nerve cells of the brain, destroying brain cells. Pedigree information regarding the incidence of Tay-Sachs within a family is depicted above. The row below that indicates the genotypes of individuals II-1, II-2, and III-1 is Select one: a. II-1 II-2 III-1 Aa Aa aa b. II-1 II-2 III-1 XAY XAXa XAXa c. II-1 II-2 III-1 XAY XAXA XaXa d. II-1 II-2 III-1 AA aa Aa

A rare blinding disease that has a relation to dengenerative factors is partially penetrant. In the following pedigrees for two families, the affected symptomatic individuals (black circles and squares) have been diagnosed with this disease due to the mutation in mitochondrial DNA m.14484T>C.     If III.4 is homoplasmic for m.14484T>C in hair, blood, urine and other tissues examined. What will occur with IV.7 then?