<span>Lafora disease is the most severe teenage-onset progressive epilepsy, a unique form of glycogenosis with perikaryal accumulation of an abnormal form of glycogen, and a neurodegenerative disorder exhibiting an unusual generalized organellar disintegration. The disease is caused by mutations of the EPM2A gene, which encodes two isoforms of the laforin protein tyrosine phosphatase, having alternate carboxyl termini, one localized in the cytoplasm (endoplasmic reticulum) and the other in the nucleus. To date, all documented disease mutations, including the knockout mouse model deletion, have been in the segment of the protein common to both isoforms. It is therefore not known whether dysfunction of the cytoplasmic, nuclear, or both isoforms leads to the disease. In the present work, we identify six novel mutations, one of which, c.950insT (Q319fs), is the first mutation specific to the cytoplasmic laforin isoform, implicating this isoform in disease pathogenesis. To confirm this mutation's deleterious effect on laforin, we studied the resultant protein's subcellular localization and function and show a drastic reduction in its phosphatase activity, despite maintenance of its location at the endoplasmic reticulum.
I got my information from </span>https://www.ncbi.nlm.nih.gov/pubmed/14722920
1.) Achodroplasia is a autosomal dominant disorder, the suspected case suggested that inorder for the parents to produce and offspring with achondroplasia. One parents must have a single mutant gene of achodroplasia to be inherited by his offspring. for this case, It is suggested that the offspring might have developed its own mutant gene as it only affect 1 in 25,000 birth. There is changes of genes during early development.
2.) The mother said that they don't have that history of disorder. again, it's autosomal dominant disorder. one parents must have that kind of disorder so their child can also inherit it. Thus, no of the childs parents is a carrier.
Answer:
r-selected species (e.g., American bullfrog)
Explanation:
The r-selected species (r-strategists) are those species in which their populations oscillate near the carrying capacity, i.e., the maximum population size sustained by a particular environment. These species are generally located in low-quality (less competitive) ecological niches and produce many offsprings that grow rapidly and have low chances of surviving to adulthood. Some examples of r-strategists include amphibians, fish, small mammals, etc. Conversely, K-selected species have more stable populations and produce a low amount of offspring (e.g., large mammals such as elephants).
Answer:
The correct order is
Prophase l , Metaphase l, Anaphase I, Telophase l, Prophase ll, Metaphase II, Telophase ll / Cytokinesis ll
Explanation:
In Meiosis there are total two phases - Meiosis I and Meiosis II and each phase consists of total six sub phases which are as follows -
Meiosis I
1. Prophase I
2. Prometaphase I
3. Metaphase I
4. Anaphase I
5. Telophase I
6. Cytokinesis I
Meiosis II
1. Prophase II
2. Prometaphase II
3. Metaphase II
4. Anaphase II
5. Telophase II
6. Cytokinesis II
Hence the correct order is
Prophase l , Metaphase l, Anaphase I, Telophase l, Prophase ll, Metaphase II, Telophase ll / Cytokinesis ll
