Congenital Hearing Loss

chromosome 1 diseases :: Article Creator Mendelian Genetics: Patterns Of Inheritance And Single-Gene Disorders Autosomal recessive single-gene diseases occur only in individuals with two mutant alleles of the disease-associated gene. Remember, for any given gene, a person inherits one allele from his or her mother and one allele from his or her father. Therefore, individuals with an autosomal recessive single-gene disease inherit one mutant allele of the disease-associated gene from each of their parents. In pedigrees of families with multiple affected generations, autosomal recessive single-gene diseases often show a clear pattern in which the disease "skips" one or more generations. Phenylketonuria (PKU) is a prominent example of a single-gene disease with an autosomal recessive inheritance pattern. PKU is associated with mutations in the gene that encodes the enzyme phenylalanine hydroxylase (PAH); when a person has these mutations, h...

what hemophilia :: Article Creator What Causes Hemophilia / Haemophilia? <?Php require_once "structure/framework/head/head_top.Php"; ??>What Causes Hemophilia? What are Chromosomes?<?Php $categoryID = 102; $subsectionID = 17; $subpageID = 3; $articleCategoryURL = "blood/"; $usefulLinkQueryString = isset($articleCategoryURL)?"?C=".Substr($articleCategoryURL, 0, -1):""; require_once "structure/framework/head/meta_pages.Php"; require_once "structure/framework/main/info/static_info_default_top.Php"; // ################################ ??> knowledge center home » hemophilia » all about hemophilia » causes of hemophilia People with hemophilia are born with it. It is caused by a fault in one of the genes that determine how the body makes blood clotting factor VIII or IX. These genes are located on the X chromosome. To understand how hemophilia is inherited, it is im...

neurofibromatosis noonan syndrome :: Article Creator

trisomy chromosome :: Article Creator When Genetics Pulls A Fast One, Gender Identification Can Become Complicated The spectrum of information that can be obtained by prenatal testing is wide and rapidly increasing. Many mutations, or "abnormalities," are inconsequential, while others are significant. Genetic counseling combined with noninvasive prenatal screening (NIPS) can be helpful. Consider this a sort of Public Service Announcement about the nuances of prenatal testing (and, in an odd way, about the selection of individual pronouns). I became interested in anomalies of the human sex chromosomes, X and Y, as a medical student, when I had a patient with a rare genetic condition that gave rise to a syndrome called "androgen insensitivity" or "testicular feminization." It is caused by either of two types of mutations on the X chromosome. (Recall that females are generally XX, while males are XY.) So, while normall...

trisomy of chromosome 21 causes :: Article Creator Trisomy 21 Causes Down Syndrome One could argue that the presence of extra copies of chromosome 21 in DS patients is only a correlation between an abnormality and the disease. However, scientists have developed trisomic mouse models that display symptoms of human DS, providing strong evidence that extra copies of chromosome 21 are, indeed, responsible for DS. It is possible to construct mouse models of DS because mouse chromosomes contain several regions that are syntenic with regions on human chromosome 21. (Syntenic regions are chromosomal regions in two different species that contain the same linear order of genes.) With mapping of the human and mouse genomes now complete, researchers can identify syntenic regions in mouse and human chromosomes with great precision. As shown in Figure 4, regions on the arms of mouse chromosomes 10 (MMU10), 16 (MMU16), and 17 (MMU17) are syntenic with regions on...

mutation may cause genetic disorders like :: Article Creator Genetic Mutation Denissenko, M. F., et al. Preferential formation of benzo[a]pyrene adducts at lung cancer mutational hotspots in P53. Science 274, 430–432 (1996) Greenblatt, M. S., et al. Mutations in the P53 tumor suppressor gene: Clues to cancer etiology and molecular pathogenesis. Cancer Research 54, 4855–4878 (1994) International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 409, 860–921 (2001) (link to article) Kimchi-Sarfaty, C., et al. "Silent" polymorphism in the MDR1 gene changes substrate specificity. Science 315, 525–528 (2006) Mulligan, L. M., et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363, 458–460 (1993) (link to article) Nells, E., et al. PMP22 Thr (118) Met: Recessive CMT1 mutation or polymorphism? Nature 15, 13–14 (1997) (link to article) Pearso...

kleefstra syndrome type 2 :: Article Creator Types Of Diabetes Mellitus Diabetes mellitus, also called diabetes, is a term for several conditions involving how your body turns food into energy. The term comes from the Greek word "diabetes," which means to siphon or to pass through, and the Latin word "mellitus," which means sweet. In 2021, 529 million people worldwide and 38.4 million in the U.S. Had diabetes.  When you eat a carbohydrate, your body turns it into a sugar called glucose and sends that to your bloodstream. Your pancreas releases insulin, a hormone that helps move glucose from your blood into your cells, which use it for energy. When you have diabetes and don't get treatment, your body doesn't use insulin like it should. Too much glucose stays in your blood, a condition usually called high blood sugar. This can cause health problems that may be serious or even life-threatening. There's no cure fo...