Description:
HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC; FDAH
ALBUMIN; ALB DYSALBUMINEMIC HYPERTHYROXINEMIA, INCLUDED
DERIVATIVE CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases Chromosome Abnormalities |
Class |
Other Disorders of Known Biochemistry |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
American Indian/Alaska Native
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
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Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
4.4 |
Passage Frozen |
7 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
ALBUMIN |
Ruffner and Dugaiczyk (Proc Natl Acad Sci USA 85:2125-2129,1988) reported a single AG-to-GG mutation within the 3' splice site of intron 6 in both albumin genes of this patient. |
|
Gene |
ALB |
Chromosomal Location |
4q11-q13 |
Allelic Variant 1 |
103600.0027; ANALBUMINEMIA, AMERICAN INDIAN TYPE |
Identified Mutation |
IVS6, A>G, -2; Ruffner and Dugaiczyk (1988) identified a structural defect in the serum albumin gene of an analbuminemic American Indian girl. Sequence determination of 1.1 kb of the 5-prime regulatory region and of 6 kb across exonic regions revealed a single AG-to-GG mutation within the 3-prime splice site of intron 6 in the defective gene of the analbuminemic person. In an in vitro assay on the RNA transcript, this mutation caused a defect in out-splicing of the intron 6 sequence and in the subsequent ligation of the exon 6/exon 7 sequences. Using polymerase-amplified genomic DNA and allele-specific oligodeoxynucleotide probes, Ruffner and Dugaiczyk (1988) also showed that the sequence of this intron 6/exon 7 splice junction was normal in a different, unrelated analbuminemic person.
|
Cytogenetics |
Chromosome 11: DERIVATIVE CHROMOSOME Aneuploid Segment 11pter->11q12 |
|
Chromosome 11: INVERSION Breakpoint 11p15 inv(11)11p15 |
|
Chromosome 11: INVERSION Breakpoint 11q13 inv(11)11q13 |
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Chromosome 9: DERIVATIVE CHROMOSOME Aneuploid Segment (+)9p11-q11 |
Remarks |
American Indian; trace amounts of normal serum albumin; non-edematous; atopic dermatitis; mild bronchial asthma; mild seizure disorder; hyperlipoproteinemia with corneal arcus; consanguineous parents; 62% cells have 46,XX,inv(11); the donor subject carries a single AG-to-GG mutation within the 3-prime splice site of intron 6 of the ALB gene which causes a defect in out-splicing of the intron 6 sequence and in the subsequent ligation of the exon 6/exon 7 sequences. |
Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
PubMed ID: 23665875 |
|
Ruffner DE, Dugaiczyk A, Splicing mutation in human hereditary analbuminemia. Proc Natl Acad Sci U S A85:2125-9 1988 |
PubMed ID: 3353369 |
|
Boman H, Hermodson M, Hammond CA, Motulsky AG, Analbuminemia in an American Indian girl. Clin Genet9:513-26 1976 |
PubMed ID: 1269174 |
Passage Frozen |
7 |
Split Ratio |
1:2 |
Temperature |
37 C |
Percent CO2 |
5% |
Percent O2 |
AMBIENT |
Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Heat Inactivated |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
Supplement |
- |
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|