Question
Alot of the photos are just info to help with question. thanks
below summarizes the current state of our the data presented are real. The our knowledge concerning syndrome X Aiof intellectual actual name of the syndrome has been fabricated so as not to deprive students of the joy derived from to formulate responses to the questions that follow the utilizing the data given below syndrome x is a human genetic disorder that results from a defect at one genetic locus and patients with a the disorder manifest pleiotropic effects that occur during embryonic development. These effects include malformation of the anterior of the eye (which causes the eye disease known as glaucoma in 50 of Syndrome X patients), mild head and face malformations and underdeveloped teeth. One of the pedigrees used to determine the mode of inheritance of the disorder is found below. Families displaying the disease were examined for linkage of the disease locus to a polymorphic site unique to each family. From such studies scientists were able to report linkage of the gene that is defective in the disorder to chromosome 4. (From this point on we will use the term "gene x" to designate the normal form of the gene that is defective in Syndrome X) c) Investigators used positional cloning strategies, a methodology for isolating a cDNA clone coding for a gene when one knows nothing about the function of the protein encoded by the gene and has no probe for use in screening a cDNA library, and ultimately isolated a full length cDNA clone coding for the normal gene x. Subsequently, they isolated a human genomic clone coding for gene x The cDNA clone as well as parts of the genomic clone were sequenced. The results are shown in Fig e) since nothing was known about the structure or function of the protein encoded by gene x, scientist deduced its amino acid sequence from the cDNA nucleotide sequence of genex and used it for further studies. The deduced sequence was analyzed via software capable of predicting with some degree amino acid structure) and the presence of of accuracy, the secondary structure of a protein (but not the complete tertiary a helix-turn-helix was revealed. Mutant gene x isolated from members of 10 different families diagnosed with Syndrome x were anal f family showed the following mutation. N number 981 was to identify the mutations therein. One mutations changed from a G to an A as shown in Fig.1. other nine families showed other distinct It is often helpful when studying human genetic disorders to have a mouse model of the disease as well as a mouse DNA clone for the gene under study. For this reason, scientists isolated a mouse cDNA clone who deduced amino acid sequence showed a 91% similarity to the deduced amino acid sequence for human gene hat you have learned this Utilizing all of the data presented, in conjunction with the many concept answer the questions that follow.
Explanation / Answer
Ans 3. The cDNA is 2111 amino acids chain long. About 275 amino acids make up protein X. The approximate molecular weight of protein X would be 78,148 Daltons for 2.11Kb of DNA.
Ans 4. The Mutation which occured at nucleotide 981 sequence lead to the change of amino acid G to A, resulting in termination of the chain.
