## Communicated by Alastair Brown Classical galactosemia is an autosomal recessive disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. Our group developed a disease-specific database containing all of the reported sequence variants in GALT (Available at: http:/
Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase
โ Scribed by N. C. Sun; C. R. Y. Sun; E. H. Y. Chu
- Publisher
- Springer
- Year
- 1977
- Tongue
- English
- Weight
- 376 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
โฆ Synopsis
In the progeny of somatic cell hybrids formed by fusion of human lymphocytes and Chinese hamster mutant cells, a single human chromosome A2 was selectively retained when grown in appropriate medium. Spontaneous breakage of this chromosome in different hybrid subclones led to the assignment of the gene for galactose-1-phosphate uridyltransferase to the centromeric region of this chromosome (2q11 leads to 2q14). This gene is shown to be syntenic to the previously mapped genes for acid phosphatase 1 and malate dehydrogenase 1.
๐ SIMILAR VOLUMES
The Duarte allele (D) is a missense mutation (N314D) that produces a characteristic isoform and partial impairment of galactose-1-phosphate uridyltransferase (GALT) in human erythrocytes, fibroblasts, and transformed lymphoblasts. The position of this amino acid is distant, however, from presumptive
We have assigned the human histamine H1-receptor gene to chromosome 3 by Southern blot analysis of a chromosome mapping panel constructed from human-hamster somatic cell hybrids. This assignment was confirmed by in situ hybridization on metaphase chromosomes and involved bands 3p14-p21.
A newborn male was diagnosed as having a duplication of distal 9p material by GTG banding analysis. Gene dose studies for galactose-1-phosphate uridyl transferase (GALT) were performed on the patient, his mother (the balanced translocation carrier), a 3-year-old 47,XY +9p male control, a 30-year-old
Glucosamine-6-sulphatase (G6S), a lysosomal enzyme found in all cells, is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of G6S results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilipp
The gene for human mineralocorticoid receptor (hMR), previously mapped to chromosome 4, has been further localized to 4q31.1 by in situ hybridization using a biotinylated 3.75 kb human cDNA clone encoding the primary amino acid sequence of hMR as a probe. Preliminary comparative mapping studies in o