Description:
HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC; FDAH
ALBUMIN; ALB DYSALBUMINEMIC HYPERTHYROXINEMIA, INCLUDED
DERIVATIVE CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Other Disorders of Known Biochemistry |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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American Indian/Alaska Native
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
4.4 |
| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| 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. |
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| 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.
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| Cytogenetics |
Chromosome 11: DERIVATIVE CHROMOSOME Aneuploid Segment 11pter->11q12 |
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Chromosome 11: INVERSION Breakpoint 11p15 inv(11)11p15 |
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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 |
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| Ruffner DE, Dugaiczyk A, Splicing mutation in human hereditary analbuminemia. Proc Natl Acad Sci U S A85:2125-9 1988 |
| PubMed ID: 3353369 |
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| 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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