X-LINKED RECESSIVE DISEASES Flashcards
a common trait that affects at least 10% of men and only one percent of women. The red-green color blindness may be partial or complete, but the latter is much less common.
Red-green color blindness
Red-green color blindness gene
OPN1LW (opsin 1, long wave sensitive)
OPN1MW (opsin 1, medium wave sensitive)
Red-green color blindness mol lesion
Nonhomologous missense substitutions at single amino acid; partial or complete exon deletion; “L/M interchange” mutations
Red-green color blindness proteins
Opsin proteins
trouble seeing colors and the brightness of colors in the usual way;
inability to tell the difference between shades of the same or similar colors.
Red-green color blindness
The Ishihara test is the most common test eye care providers use to diagnose red-green color blindness. For this test, a provider shows a series of color plates.
Red green color blindness
hereditary hemorrhagic disorder resulting from a congenital deficit of factor VIII that manifests as protracted and excessive bleeding either spontaneously or secondary to trauma.
Hemophilia A
Hemophilia gene
Factor VIll
Hemophilia mol lesion
Gene deletions, insertions, and point mutations
Hemophilia protein
Factor VIII protein
Hemarthrosis, especially with mild or no antecedent trauma
Deep-muscle hematomas
Intracranial bleeding in the absence of major trauma
Neonatal cephalohematoma or intracranial bleeding
Prolonged bleeding or renewed bleeding after initial bleeding stops following tooth extractions, mouth injury, or circumcision *
Prolonged or delayed bleeding or poor wound healing following surgery or trauma *
Unexplained gastrointestinal bleeding or hematuria *
Heavy menstrual bleeding, especially with onset at menarche
Prolonged nosebleeds, especially recurrent and bilateral *
Excessive bruising, especially with firm, subcutaneous hematomas
Hemophilia
An inherited X-linked recessive genetic disorder that, with rare female exceptions, most often affects males. It is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
Lesch nyhan
Lesch nyhan gene
Hypoxanthine Phosphoribosyltransferase 1 (HPRT1 gene)
Lesch nyhan mol lesion
Point mutation: lack of HPRT enzyme activity
Lesch nyham
Protein
Hypoxanthine-guanine phosphoribosyl transferase (HPRT)
Impaired kidney function, acute gouty arthritis, and self-mutilating behaviors such as lip and finger biting and/or head banging, involuntary muscle movements, and neurological impairment.
Lesch nyhan
is a group of diseases that cause progressive weakness and loss of muscle mass.
abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.
Muscular dystrophy
Muscular dystrophy gene
Dytrophin
Muscular dystrophy mol lesion
Deletions: frameshift errors; Point mutations (small frameshift rearrangements)
Frequent falls
Difficulty rising from a lying or sitting position
Trouble running and jumping
Waddling gait
Walking on the toes
Large calf muscles
Muscle pain and stiffness
Learning disabilities
Delayed growth
Muscular dystrophy
is a genetic disorder that affects a person’s development, especially that person’s behavior and ability to learn.
affects both males and females. However, females often have milder symptoms than males.
Fragile X syndrome
Fragile X syndrome gene
Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene
Fragile X Messenger Ribonucleoprotein 1 (FMR1) mol lesion
point mutations or deletions within or around the FMR1 locus: CGG triple repeat
Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene
Protein
Fragile X Mental Retardation 1 protein (FMRP)
Developmental delays (not sitting, walking, or talking at the same time as other children the same age);
Learning disabilities (trouble learning new skills); and
Social and behavior problems (such as not making eye contact, anxiety, trouble paying attention, hand flapping, acting and speaking without thinking, and being very active).
FXS
