genetic disorders of hemoglobin ppt

... usu-Megacolon—Dilation of the colon. Parasympathetic ganglion cell—Type of nerve cell normally found in the wall of the colon development of enterocolitis Genetic counseling can be offered to a couple ... failure of the front part of the brain to properly separate into what is commonly know as the right and left halves of the brain This lack of separation is often accompanied by abnormalities of the ... The severity of the effect of the disease on the brain is often reflected in craniofacial abnormalities (abnormal-ities of the face and skull) This has led to many health care professionals utilizing

Ngày tải lên: 10/08/2014, 15:20

... a disorder of metab-olism It is one of a group of genetic disorders called the leukodystrophies, diseases that involve abnormal growth of the fatty covering of nerve fibers (myelin sheath) Description ... relationships in families and the presence of disorders Using these charts, a medical professional such as a geneticist or genetic counselor, can analyze the genetic risk in a family for a particular ... with potential risks of pregnancy loss and therefore are only offered to women who have an increased risk of having a baby born with a chromo-some problem or chromo-some type of genetic condition

Ngày tải lên: 10/08/2014, 15:20

... matter of the brain. (Photo Researchers, Inc.) [...]... GALE ENCYCLOPEDIA OF GENETIC DISORDERS Genetic profile The genetics of AS are complex There are at least five different genetic ... cases of Alzheimer disease. GALE ENCYCLOPEDIA OF GENETIC DISORDERS 65 Alzheimer disease KEY TERMS Dementia—A condition of deteriorated mental ability characterized by a marked decline of intel- ... another form of vascular dementia that must be excluded as a possible cause of dementia. Diagnosis of diffuse white matter disease is made by MRI, which shows generalized death of large parts of the

Ngày tải lên: 10/08/2014, 15:20

... studies of a large number of families. 130 GALE ENCYCLOPEDIA OF GENETIC DISORDERS Autism There are two separate genetic aspects of autism— studies that suggest a genetic component to autism and genetic ... GALE ENCYCLOPEDIA OF GENETIC DISORDERS Attention deficit hyperactivity disorder KEY TERMS Allele—One of two or more alternate forms of a gene. Autosomal dominant—A pattern of genetic inher- itance ... narrowing of the roof of the mouth (cleft palate) The anus may be GALE ENCYCLOPEDIA OF GENETIC DISORDERS positioned more forward than normal The genitals are often... PO

Ngày tải lên: 10/08/2014, 15:20

... cardiofaciocutaneous syndrome.The genetic change responsible for cardiofaciocutaneoussyndrome is present in every cell of the body and, at thecurrent time, there is no means of correcting this geneticabnormality ... syndromes—A col-lection of genetic disorders characterized by cone-shaped abnormality of the skull and partial fusing of adjacent fingers or toes Acrocephaly—An abnormal cone shape of the head Autosome—Chromosome ... making a discussion of the genetics of CP complicated A number of tary/genetic syndromes have signs and symptoms similar heredi-to CP, but usually also have problems not typical of CP.Put another

Ngày tải lên: 10/08/2014, 15:20

... 19 98): 4 4 1- 448 GALE ENCYCLOPEDIA OF GENETIC DISORDERS Lurie, I “Genetics of the Costello Syndrome.” American Journal of Medical Genetics (September 19 94): 35 8-3 59 ... one fetus grows inside the body of the other twin. Genetic profile Scientists are still searching for the cause of con- joined twins. They believe a combination of genetic and environmental factors ... GALE ENCYCLOPEDIA OF GENETIC DISORDERS Corneal dystrophy KEY TERMS Basement membrane—Part of the epithelium, or outer layer of the cornea. Bowman’s layer—Transparent sheet of tissue directly

Ngày tải lên: 10/08/2014, 15:20

... than 30 years old Genetic profile As stated above, there are different forms of glau-coma that either occur alone or as the result of a genetic syndrome In some cases, specific genetic abnormalitieshave ... syndrome often experience exces-sive skin growth in the palms of the hands and on thesoles of the feet Because of this overgrowth of skin lay- Trang 18ers, increased sweating (hyperhidrosis) is often ... degeneration of the cells Onychogryphosis—Overgrowth of the fingernails and toenails Palmoplantar keratoderma—Group of mostly hereditary disorders characterized by thickening of the corneous layer of skin

Ngày tải lên: 10/08/2014, 15:20

... metacentric chromosome Satellites of chromosomes—Small segments of genetic material at the tips of the short arms ofchromosomes 13, 14, 15, 21, and 22 Submetacentric—Positioning of the centromere between ... triad of webbedneck, low hairline, and decreased flexibility of the neck.However, the presence of abnormalities of the cervical Trang 21anomalies of the upper neck (cervical vertebrae).Anomalies of ... causes only 10% of the known cases of LCA, andthe treatment in this experimental study does not workfor other types of LCA Location of genetic abnormality for specific types of Leber congenital

Ngày tải lên: 10/08/2014, 15:20

... ofdeath upon the first onset of symptoms The first symp-toms of MCAD deficiency generally occur within thefirst three years of life The average age of onset of thefirst symptoms is one year of ... spasm—Stiffening of the jaw muscles. Often one of the first symptoms of malignanthyperthermia susceptibility that occurs after expo-sure to a trigger drug Metabolism—The total combination of all of the ... including high-profile diseases such as Alzheimer’s, breast cancer, and heart disease. ISBN 0-7876-5612-7 (set : hardcover : alk.paper 1 Genetic disorders—Encyclopedias, Juvenile [1 Genetic disorders—Encyclopedias

Ngày tải lên: 10/08/2014, 15:20

... because of the interplay of many genetic factors and limited environmental factors. Others occur because of limited genetic factors and significant environmental factors. The number of genetic ... newborns of mothers who have DM Congenital means that the condition is present from birth GALE ENCYCLOPEDIA OF GENETIC DISORDERS Genetic profile The most... out any specific genetic ... most fre- GALE ENCYCLOPEDIA OF GENETIC DISORDERS 763 Multiple endocrine neoplasias [...]... by the age of 12 Weakening of the trunk muscles around this age often leads to scoliosis (a

Ngày tải lên: 10/08/2014, 15:20

... but possibly related genetic disorders OFD syndromesare also referred to as digito-orofacial syndromes As of differ-2001, there are nine different OFD syndromes, identified as OFD syndrome type ... syndrome,Varadi syndrome, Varadi-Papp syndrome; • OFD syndrome type VII: Whelan syndrome Genetic profile The mode of inheritance of OFD syndrome depends on the type of the syndrome Type I is inherited as ... of their somatic cells The somatic cells have two of each chromosome and therefore two of each gene since one of each type of chromosome is inherited from the mother in the egg cell and one of

Ngày tải lên: 10/08/2014, 15:20

... classi-fying schizophrenic disorders is incomplete understanding of their causes As of 1998, it is thought that these disordersare the end result of a combination of genetic, neurobio-logical, ... sequence of DNA or part of a chromosome Craniosynostosis—Premature, delayed, or other-wise abnormal closure of the sutures of the skull Cranium—The skeleton of the head, which include all of the ... group of rare genetic disorders with cran-iosynostosis Craniosynostosis means there is premature closure of the sutures (seams) between certain bones of the cranium This causes the shape of the

Ngày tải lên: 10/08/2014, 15:20

... dysplasia.Type 2 collagen is the major collagen of a component ofthe spine called the nucleus pulposa, of cartilage, and ofvitreous (a component of the eye) All of these conditionshave common clinical ... gene serves to regulate theactivity of other genes in this pathway Genetic profile Men and women both have 23 pairs of somes—22 pairs of autosomes and one pair of sex chro-mosomes (either XX in ... feature, testing of children may be reason-able for possible prevention of health problems The detection rate and usefulness of genetic testing depends on the genetic syndrome If genetic testing

Ngày tải lên: 10/08/2014, 15:20

... ENCYCLOPEDIA OF GENETIC DISORDERS 1155 Turner syndrome KEY TERMS Chromosome—A microscopic thread-like struc- ture found within each cell of the body that con- sists of a complex of proteins and ... accumulated under the skin Genetic profile The genetics of VWD are complex and involve a gene that produces vWF and is found on chromosome 12 Since two of each type of chromosome are inherited, ... is often recommended for individuals with learn- ing disabilities, developmental delays, mental retardation, autism, and other mental and emotional disorders. GALE ENCYCLOPEDIA OF GENETIC DISORDERS

Ngày tải lên: 10/08/2014, 15:20

... migration of the neural crest cells in the embryo. NEURODEGENERATIVE Relating to degeneration of nerve tissues. NEUROFIBROMAA soft tumor usually located on a nerve. NEUROFIBROMATOSISProgressive genetic ... together, which aids in transfer of the lipid in and out of cells, across the wall of the intestine, and through the blood stream. LIPOSOMEFat molecule made up of layers of lipids. LISSENCEPHALYA condition ... Development of excess body and facial hair, deepening of the voice, and increase in muscle bulk in a female due to a hormone disorder. MASSETER SPASM Stiffening of the jaw muscles Often one of the

Ngày tải lên: 10/08/2014, 15:20

... Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA 2 Department of Environmental and Occupational Health, Graduate School of Public Health, University of ... University, Feinberg School of Medicine, Division of Rheumatology, Chicago, IL, USA 4 Division of Rheumatology and Clinical Immunology, Lupus Center of Excellence, University of Pittsburgh, Pittsburgh, ... pro-moter to  160 bp upstream of ATG codon with the presence of critical cis-acting elements between)166 and )65 Cross-species conservation anal-ysis of the APOH promoters of seven species indicated

Ngày tải lên: 15/03/2014, 10:20

... glycosylation of hemoglobin subunits Based on molecular mass information, Daphnia magna hemoglobin is demonstrated to consist of 16 subunits The quaternary structure of the Daphnia magna hemoglobin ... 100 C time Fig 1 Sedimentation velocity analysis of the hemoglobin (Hb) of red (Hb-rich) Daph-nia magna A preparation of Hb purified by chromatofocusing was centrifuged at 116 480 g at 20
C; ... 0.00 I II B Fig 2 Sedimentation equilibrium analysis of the hemoglobin (Hb) of red Daphnia magna A preparation of Hb purified by chromatofo-cusing was centrifuged at 4660 (I), 5900 (II) and

Ngày tải lên: 16/03/2014, 13:20

... first and second domain of the hemoglobin (U67067) of D magna; DpuHb1.1 and DpuHb1.2, first and second domain of the hemoglobin (Q9U8H0) of D pulex; Chironomus thummi thummi hemoglobins CttHbI (P02221), ... comprising of glob2 and glob3 is the earliest offshoot of the insect globins Therefore, the separation of the glob2⁄ glob3 clade and other insect globins likely occurred early in the evolution of this ... species of the melanogaster subgroup, glob2 is located on chromosome 3R, and on the orthologous chromosome 2 of D pseudoobscura Gene synteny analyses of the neighbouring genes showed conservation of

Ngày tải lên: 23/03/2014, 11:20