genetics chapter 9 Flashcards
what chromosome is the immunoglobulin heavy chain on
14q32
what chromosome is the immunoglobulin k light chain on
2p13
what chromosome is the immunoglobulin lambda light chain on
22q11
what chromosome is the T cell receptor alpha on
14q11
what chromosome is the T cell receptor beta on
7q35
what chromosome is the T cell receptor gamma on
7p15
what chromosome is the T cell receptor delta on
14q11
what chromosome is the beta2-microglobulin on
15q21-22
what chromosome are RAG1 and RAG2 on
11p13
what is the associated MHC allele for type 1 diabetes
DQB1*0302
what is the associated MHC allele for ankylosing spondylitis
B27
what is the associated MHC allele for narcolepsy
DR2 and DQA1, DQB1
what is the associated MHC allele for celiac disease
DR3, DR7
what is the associated MHC allele for RA
DR1, DR4
what is the associated MHC allele for myasthenia gravis
DR3, DR7
what is the associated MHC allele for MS
DR2
what is the associated MHC allele for pemphigus vulgaris
DR4
what is the associated MHC allele for SLE
DR3
what is the associated MHC allele for hemochromatosis
A3
what is the associated MHC allele for malaria
B53
what is the associated MHC allele for graves disease
DR3
what is the associated MHC allele for psoriasis vulgaris
Cw6
what is the associated MHC allele for squamous cell cervical carcinoma
DQw3
what is the condition with absence of B cells that leads to recurrent bacterial infections
X-linke agammaglobulinemia
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
SCID
what is the condition with a protein kinase deficiency leading to T-cell and B-cell deficiency
SCID due to Jak3 deficiency
what condition is the lack of recombinase activity impairing VDJ impairment, leading to B cell and T cell deficiency
SCID due to rAG1 or RAG2 deficiency; Omenn syndrome
what is the T cell deficiency that leads to impaired B cell response
SCID due to IL-7 alpha chain deficiency
what condition is due to lack of CTLs; defective Th cells; impaired antibody response
Zap70 kinase deficiency
what condition has deficiency MHC1 expression that leads to T cell and B cell deficiency
BLS
what condition has congenital malformations that include abnormal facial features, congenital heart disease, and thymus abnormality leading to T cell deficiency
DiGeorge anomaly
what condition has DNA repair defect characterized by unsteady gate, telangiectasia, and thymus abnormality producing T cell deficiency
ataxia telangiectasia
what condition is described by abnormal, small platelets, eczema, and abnormal T cells causing susceptibility to opportunistic infections
wiskott-aldrich syndrome
what condition is described by partial albinism, defective lysosomal assembly, giant cytoplasmic granules, abnormal NK cells and neutrophils leading to recurrent bacterial infections
chediak-higashi syndrome
what condition is described by mutations in intern receptor gene produce phagocytes that cannot recognize and ingest microorganisms, resulting in severe bacterial infections
leukocyte adhesion deficiency
