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M2M genetics diseases > Disease genetics > Flashcards

Disease genetics Flashcards

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Biology 101 flashcards
1
Q

Sickle cell anemia

A

Single base mutation of codon #6 of beta-globin gene: Glu –> Val; novel property

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2
Q

Sickle cell trait

A

HbS/HbA (_2_2)

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3
Q

Hemoglobin C

A

Single base mutation of codon #6 of beta-globin gene: Glu –> Lys

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4
Q

Hemoglobin C trait

A

HbC/HbA (_2_2)

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5
Q

Hemoglobin E

A

Single point mutation in beta globin gene at position 26, changing Glutamic Acid –> Lys leading to splicing problems (structural change)

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6
Q

Hemoglobin SC

A

_S/_C

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7
Q

Thalassemia

A

Markedly reduced or no synthesis of one globin type

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8
Q

_-thalassemia-1

A

Deletion of both alpha globin genes on both homologs

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9
Q

_-thalassemia-1 trait

A

Deletion (50% decrese) of alpha globin gene on same homolog

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10
Q

_-thalassemia-2 trait

A

Deletion (50% decrese) of one alpha globin gene on both homologs (-/-) = African; (__/–) = SE Asia

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11
Q

-thal-1/-thal-2

A

25% of normal alpha globin levels

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12
Q

_-thalassemia major

A

No beta globin

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13
Q

_-thalassemia minor

A

Only one beta globin gene

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14
Q

Simple _-thalassemia

A

Mutations or deletions that impair production of beta globin chain alone

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15
Q

Complex _-thalassemia

A

Large deletion that remove beta globin gene plus other genes in the beta cluster or the LCR

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16
Q

Hemoglobin Kempsey

A

Asp99Asn missense mutation; gain of function mutation

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17
Q

HPFH

A

HbF (gamma globin) still active in adults instead of transition to beta globin

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18
Q

HbH

A

_-/–

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19
Q

Turner Syndrome

A

Absence of two complete copies of X (45X)

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20
Q

Klinefelter Syndrome

A

47XXY

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21
Q

Down Syndrome

A

Trisomy 21 normally due to nondisjunction from maternal gamete

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22
Q

Edwards Syndrome

A

Trisomy 18

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23
Q

Patau Syndrome

A

Trisomy 13

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24
Q

XX Male

A

Translocation of Y/autosomal chromosome due to unequal crossing over in paternal gamete meiosis

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25
Q

XY Female

A

Deletion of SRY (Yp11.3) or duplication of DAX1 (Xp21.2-p21.3)

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26
Q

Duchenne Muscular Dystrophy

A

Loss of function of DMD gene

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27
Q

Becker Muscular Dystrophy

A

Abnormal quality or quantity of dystrophin (DMD gene)

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28
Q

Hemophilia A

A

22A inversion on X chromosome causes this X-linked recessive disease characterized by deficiency of Factor VIII

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29
Q

Fragile-X Syndrome

A

Trinucleotide repeat disorder (CGG) due to mutation of 5’ UTR FRM1 gene (failure to express FMRP protein); > 200 CGG repeats leads to hypermethylation that inactivates the FMR1 promoter and thus a loss FMRP expression

30
Q

Fabry Disease

A

X-linked deficient in alpha-galactosidase A activity which is a lipid, due to improper cleaveage. or can happen with a point mutation that doesn’t allow for proper folding of prot that cleaves the glucosphingolipid. Recombinant Alpha-Gal

31
Q

Chronic Myelogenous Leukemia

A

Translocation of Abl gene from chromosome 9 to chromosome 22 with BCR gene which turns on tyrosine kinase activity, allowing certain blood cells to grow uncontrollably

32
Q

Acute Myeloid Leukemia (M1/M2)(AML)

A

Translocation of ETO gene from chromosome 8 to chromosome 21 with AML1 gene

33
Q

Acute Promyelogenous Leukemia (PML)(APL)

A

Subtype of AML caused by translocation of PML gene from chromosome 15 to chromosome 17 with RARA gene that blocks cell differentiation

34
Q

Acute Lymphoblastic Leukemia (ALL)

A

B cell deficiency due to t(1:14)

35
Q

I-cell disease

A

Lysosomal storage disease due to a failure to add a PO4 group to mannose lysosomes

36
Q

Homocystinuria

A

Poor/absent binding of the cofactor to the custathionine synthase apoenzyme

37
Q

_1-antitrypsin Deficiency (ATD)

A

Deficiency in SERPINA1 (aka ATT) which normally regulates elastase to prevent elastin destruction in connective tissues of the lung

38
Q

Phenylketonuria

A

PAH (phenylalanine hydroxylase) defect which normally converts Phe –> Tyr and is a BH4 cofactor (for epinephrin and serotonin synthesis)

39
Q

Tay-Sachs Disease

A

HEXA (hexosaminidase A) defective

40
Q

Sandhoff Disease

A

HEXA (hexosaminidase A) and HEXB (hexosaminidase B) defective

41
Q

AB-variant of Tay-Sachs

A

GM2 accumulates due to a defect in the GM2 activator protein (GM2-AP)

42
Q

Wilson’s Disease

A

ATP7B gene mutation prevents adequate copper removal

43
Q

Congenital Adrenal Hyperplasia

A

Cortisol levels too low, androgens become too high, overproduction of T

44
Q

Friedreich’s Ataxia

A

GAA repeat in an intron of FXN gene which codes frataxin protein

45
Q

Alpha-1 AT

A

deficiency in alpha-1 antitrypsin, elastases blocked

46
Q

Pompe Disease

A

lack of alpha-glucosidase. Lysosomal storage issue. Musc fibers destroyed by glycogen deposition

47
Q

Gaucher’s Disease

A

Lysosomal storage disease characterized by deficiency of glucocerebrosidase that causes an accumulation of glucocerebroside in lysosomes causing macrophage enlargement leading to fibrillar or striated apperance

48
Q

Acute Intermittent Porphyria

A

Deficiency of porphobilinogen deaminase in heme production pathway causes a stall and buildup of porphobilinogen (intermediate) in cytoplasm

49
Q

Achondroplasia

A

Mutation in FGFR3 gene (tyrosine kinase receptor) that substitutes G for A or G for C (Gly380Arg) on chromo 4. Only heterozygote muts are viable. Gain of function mutation. 1/40,000 births

50
Q

Neurofibromatosis Type I

A

Loss of function mutation of NF1 (neurofibromin) which is a tumor suppressor gene on chromo 17

51
Q

Marfan Syndrome

A

Mutation of FBN1 gene which is an extracellular matrix protein. The mutt makes a non-functional fibrillin protein from chromo 15.

52
Q

Polycystic Kidney Disease (PKD)

A

Truncation of polycystin 1 and/or 2 proteins due to PKD1 (chromo 16) and PKD2 (chromo 4) mutations respectively

53
Q

Familial Hypercholesterolemia

A

Mutation in LDL receptor gene

54
Q

Huntington Disease

A

Trinucleotide repeat disorder of CAG on chromosome 4 with glutamine expansion in HTT gene (exon); paternal transmission bias

55
Q

Myotonic Dystrophy

A

Maternal preference with CUG or CCTG repeat. Type 1 repeat in 3’ UTR, Type 2 in intron on DM gene

56
Q

Osteogenesis Imperfecta Type I

A

Nonsense/frameshift mutation in COL1A1. Loss of function with abnormal pro_-1 collagen strand

57
Q

Osteogenesis Imperfecta Type II, III, IV

A

Pro_-2 has added/missing piece, disallows proper collagen folding

58
Q

Hereditary Neuropathy with Liability to Pressure Palsies

A

Deletion of part of PMP22 gene and then remaining piece is recombined with homolog

59
Q

Charcot-Marie-Tooth

A

Duplication of PMP22 gene leads to gain of function on chromo 17

60
Q

Familial Amyotophic Lateral Sclerosis (ALS)

A

Incomplete, age-dependent penetrance, allelic and genetic hetterogeneity through mutation in codon 4 of SOD1 gene + _ 4 other AD loci ALS (3,4,6,7)

61
Q

Multiple Endocrine Neoplasia (MEN’s)

A

Multiple endocrine tumors due to mut in RET gene.

62
Q

Deafness (Nonsyndromic)

A

can be AR due to allelic hetergeneity. GJB2 mutation causes 1/2 of all nonsyn. cases

63
Q

Van der Woude

A

lower lip pits, cleft lip with or without cleft palate, and cleft palate alone , bad dentition

64
Q

DiGeorge

A

Del on 22q chromo. The TBX gene is gone

65
Q

Velocardiofacial Syndrome

A

Del on 22q chromo.

66
Q

WAGR Syndrome

A

Contiguous gene deletion syndrome of PAX6 and WT1 on chromo 11p. Generally not inherited but caused by spontaneous deletion in eiosis or early fetal development.

67
Q

OTC Disorder

A

Missing OTC gene that stops proper urea cycling function - can’t process many foods

68
Q

Prader-Willi Syndrome

A

No active PWS gene due to paternal deletion and maternal silencing or double maternal gene

69
Q

Angelman Syndrome

A

No active AS gene due to maternal deletion and paternal silencing

70
Q

Progeria

A

Lamin A-C mutation, makes progerin that is targeted by nuc membrane Farnesyl groups

M2M genetics diseases (2 decks)

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