X-LINKED RECESSIVE DISEASES

Question 1

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.

Answer 1

Red-green color blindness

Question 2

Red-green color blindness gene

Answer 2

OPN1LW (opsin 1, long wave sensitive)

OPN1MW (opsin 1, medium wave sensitive)

Question 3

Red-green color blindness mol lesion

Answer 3

Nonhomologous missense substitutions at single amino acid; partial or complete exon deletion; “L/M interchange” mutations

Question 4

Red-green color blindness proteins

Answer 4

Opsin proteins

Question 5

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.

Answer 5

Red-green color blindness

Question 6

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.

Answer 6

Red green color blindness

Question 7

hereditary hemorrhagic disorder resulting from a congenital deficit of factor VIII that manifests as protracted and excessive bleeding either spontaneously or secondary to trauma.

Answer 7

Hemophilia A

Question 8

Hemophilia gene

Answer 8

Factor VIll

Question 9

Hemophilia mol lesion

Answer 9

Gene deletions, insertions, and point mutations

Question 10

Hemophilia protein

Answer 10

Factor VIII protein

Question 11

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

Answer 11

Hemophilia

Question 12

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).

Answer 12

Lesch nyhan

Question 13

Lesch nyhan gene

Answer 13

Hypoxanthine Phosphoribosyltransferase 1 (HPRT1 gene)

Question 14

Lesch nyhan mol lesion

Answer 14

Point mutation: lack of HPRT enzyme activity

Question 15

Lesch nyham

Protein

Answer 15

Hypoxanthine-guanine phosphoribosyl transferase (HPRT)

Question 16

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.

Answer 16

Lesch nyhan

Question 17

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.

Answer 17

Muscular dystrophy

Question 18

Muscular dystrophy gene

Answer 18

Dytrophin

Question 19

Muscular dystrophy mol lesion

Answer 19

Deletions: frameshift errors; Point mutations (small frameshift rearrangements)

Question 20

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

Answer 20

Muscular dystrophy

Question 21

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.

Answer 21

Fragile X syndrome

Question 22

Fragile X syndrome gene

Answer 22

Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene

Question 23

Fragile X Messenger Ribonucleoprotein 1 (FMR1) mol lesion

Answer 23

point mutations or deletions within or around the FMR1 locus: CGG triple repeat

Question 24

Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene

Protein

Answer 24

Fragile X Mental Retardation 1 protein (FMRP)

Question 25

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).

Answer 25

FXS