genetics chapter 9 Flashcards

1
Q

what chromosome is the immunoglobulin heavy chain on

A

14q32

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2
Q

what chromosome is the immunoglobulin k light chain on

A

2p13

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3
Q

what chromosome is the immunoglobulin lambda light chain on

A

22q11

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4
Q

what chromosome is the T cell receptor alpha on

A

14q11

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5
Q

what chromosome is the T cell receptor beta on

A

7q35

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6
Q

what chromosome is the T cell receptor gamma on

A

7p15

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7
Q

what chromosome is the T cell receptor delta on

A

14q11

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8
Q

what chromosome is the beta2-microglobulin on

A

15q21-22

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9
Q

what chromosome are RAG1 and RAG2 on

A

11p13

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10
Q

what is the associated MHC allele for type 1 diabetes

A

DQB1*0302

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11
Q

what is the associated MHC allele for ankylosing spondylitis

A

B27

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12
Q

what is the associated MHC allele for narcolepsy

A

DR2 and DQA1, DQB1

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13
Q

what is the associated MHC allele for celiac disease

A

DR3, DR7

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14
Q

what is the associated MHC allele for RA

A

DR1, DR4

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15
Q

what is the associated MHC allele for myasthenia gravis

A

DR3, DR7

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16
Q

what is the associated MHC allele for MS

A

DR2

17
Q

what is the associated MHC allele for pemphigus vulgaris

A

DR4

18
Q

what is the associated MHC allele for SLE

A

DR3

19
Q

what is the associated MHC allele for hemochromatosis

A

A3

20
Q

what is the associated MHC allele for malaria

A

B53

21
Q

what is the associated MHC allele for graves disease

A

DR3

22
Q

what is the associated MHC allele for psoriasis vulgaris

A

Cw6

23
Q

what is the associated MHC allele for squamous cell cervical carcinoma

A

DQw3

24
Q

what is the condition with absence of B cells that leads to recurrent bacterial infections

A

X-linke agammaglobulinemia

25
Q

what is the condition with T-cell deficiency leading also to impairment of humoral immune responses; fatal unless treated by bone marrow transplantation or gene therapy

A

SCID

26
Q

what is the condition with a protein kinase deficiency leading to T-cell and B-cell deficiency

A

SCID due to Jak3 deficiency

27
Q

what condition is the lack of recombinase activity impairing VDJ impairment, leading to B cell and T cell deficiency

A

SCID due to rAG1 or RAG2 deficiency; Omenn syndrome

28
Q

what is the T cell deficiency that leads to impaired B cell response

A

SCID due to IL-7 alpha chain deficiency

29
Q

what condition is due to lack of CTLs; defective Th cells; impaired antibody response

A

Zap70 kinase deficiency

30
Q

what condition has deficiency MHC1 expression that leads to T cell and B cell deficiency

A

BLS

31
Q

what condition has congenital malformations that include abnormal facial features, congenital heart disease, and thymus abnormality leading to T cell deficiency

A

DiGeorge anomaly

32
Q

what condition has DNA repair defect characterized by unsteady gate, telangiectasia, and thymus abnormality producing T cell deficiency

A

ataxia telangiectasia

33
Q

what condition is described by abnormal, small platelets, eczema, and abnormal T cells causing susceptibility to opportunistic infections

A

wiskott-aldrich syndrome

34
Q

what condition is described by partial albinism, defective lysosomal assembly, giant cytoplasmic granules, abnormal NK cells and neutrophils leading to recurrent bacterial infections

A

chediak-higashi syndrome

35
Q

what condition is described by mutations in intern receptor gene produce phagocytes that cannot recognize and ingest microorganisms, resulting in severe bacterial infections

A

leukocyte adhesion deficiency