Flash Cards Diseases.txt

HBA1 and HBA2 deletion, alpha-globin chromosome 16, unequal crossing over and homologous pairing, autosomal recessive, reduction in the production of alpha-globin

deletion of B-globin genes, frameshift or nonsense mutation, major: homozygote, impaired RNA synthesis, impaired primary mRNA,

downregulation two beta-globin genes minor: heterozygote

imprinting-defect in the maternal gene inactivation of deletion on chromosome 15 mental retardation, ataxia

imprinting-defect in the paternal gene inactivation of paternal allele that is normally active mental retardation, obesity, hypotonia, hyperphasia

LDL-Receptor gene, chromosome 19 Alu repeats-->unequal crossing over inability to bind cholesterol, high cholesterol

Dystrophin gene Mutation in very long gene X-linked recessive progressive neuromuscular disorder

NER coupled gene NER mutation-->inability to repair thymine dimers autosomal recessive inability of Nucleotide Excision Repair (NER)--> unable to repair DNA damage from UV because thymine-dimers require NER, skin malginancy first, then neuro

NER coupled gene, not the XP gene NER mutation autosomal recessive

MSH2 and MLH1 (60%) MSH1 and PMS2 also involved Error in msmatch repair-->Microsatellite instability autosomal dominant Mutations in MMR lead to inability to repair single nucleotide errors-->tumors in proximal colon (sometime endometrium, urinary tract, stomach), 90% are MSI-H or MSI-L

chromosome 17 stem loop is destabilized as a result-->causes increase recognition of exon 10 Related to Alzheimers

translocation from chromosone 9-->22 (philadelphia chromosome, ABL BCR genes) Puts regulatory region in the wrong place N/A myeloid stem cell proliferation, splenomegaly

CFTR (chromosome 7) Poly T tract-homozygous loss of cAMP ion channel malfunction- cells cannot maintain osmolality, missfolded proteins in PDZ domain autosomal recessive severe pulmonary disease, male infertility

MECP2 (X-chrome) Inability to recruit binding proteins to methylated sites at CpG islands X-linked dominant DNF build up in the brain leading to severe neurological disorders and mental retardation

Dominant negative protein aggregates in brain unknown,role of glutamate and myelnation familial account for 5-10% death of upper and lower motor neurons-->muscle twitching, weakness, muscle atrophy

defect in ankyrin binding Autosomal dominant hemolytic anemia, splenomegaly, RBCs are tennis ball-like

defect in spectrin self association site to form the slinky Autosomal dominant hemolytic anemia, splenomegaly, RBCs are elliptical

post-translational modification in enzymatic processing Deficiency in glucocerebrosidase fatty accumulations spleen, liver, kidney, brain, blood, bone marrow THERAPY: GENZYME

B-globin gene, point mutation from Glutamate to Valine Hb-S polymerizes in deoxygenated conditions Autosomal co-dominant Anemia, joint pain, jaundice, splenomegaly

triglyceride (LDL) accumulation in arteries high cholesterol (LDL accumulation)

lactase enzyme activity decreased with age deficiency in the lactase enzyme abdominal cramping, indigestion

deficiency in N-acetylglucose 1 P transferase substrate for that enzyme builds up in the lysosome and inclusion bodies seen in fibroblasts extracellular matrix substrate for that enzyme builds up in the lysosome and inclusion bodies seen in fibroblasts extracellular matrix

phospholipid synthesis enhanced because of IgEs (anaphylactic shock)

collagen type III defect involved the mutation in collagen processing hyper flexible joint, joint disease

abnormal type I collagen autosomal dominant multiple factors with minimal trauma, hearing loss, dental imperfcetion

retinal Ganglion Cells (RGCs) and their axon, mitochondrial inheritance, acute or subacute loss of central vision (mostly young males)

trisomy 13, cleft pallet

trisomy 18, distinct head shape (large back), dysmophic folding of the hand, rocker bottom feet

deletion of low-copy repeat sequence on chromosome 17

duplication of low-copy repeat sequence on chromosome 17

deletion of low-copy repeat sequence on chromosome 22, cardiac abnormalities

47 XXY and XXY variants, males, tall, thin, long legs, hypogonadism with infertility, mild learning disabilities, socially aggressive

47 XYY, males, pretty normal, don't daignose until being worked up for unexplained mental retardation, socially aggressive

47 XXX, females, not classified as mentally retarded, but are learning disabled and poor social adjustment

45 X, 99% fetal demise, short stature, gonadal dysgenesis, webbed neck, low posterior hairline, broad chest, frequent renal problems, average to above average intelligence