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Literature DB >> 1999347

Physical mapping of two Xp markers DXS16 and DXS143.

U Thies¹, V V Rao, W Engel, J Schmidtke.

Abstract

Lymphocyte karyotyping of an infant girl with the clinical features of microphthalmia, iridoschisis, goiter, hip joint dysplasia, labium synechia and craniotabes revealed an Xp deletion. The lymphocyte karyotypes of the parents were normal. Bromodeoxyuridine incorporation studies showed that, in 42 out of 43 metaphases, the deleted X chromosome was late replicating. In one metaphase, the normal X chromosome was observed to be allocyclic. Using DNA markers from the Xp22 region, the breakpoint was assigned distal to DXS16 (pXUT23) and proximal to DXS143 (dic56). Dosage intensity measurements confirmed that the STS gene and the DNA marker DXS31 were involved in the deleted area. Restriction fragment length polymorphism analysis revealed that the paternally derived X-chromosome was deleted.

Entities: Chemical Disease Species

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Year: 1991 PMID： 1999347 DOI： 10.1007/bf00201850

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

25 in total

1. Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors: E M Southern
Journal: J Mol Biol Date: 1975-11-05 Impact factor: 5.469

2. Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X-linked gene.

Authors: R M Brown; N J Fraser; G K Brown
Journal: Genomics Date: 1990-06 Impact factor: 5.736

3. Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.

Authors: Sarah Vergult; Bart Leroy; Ilse Claerhout; Björn Menten
Journal: Mol Vis Date: 2013-02-06 Impact factor: 2.367

3 in total

Physical mapping of two Xp markers DXS16 and DXS143.

1. Detection of specific sequences among DNA fragments separated by gel electrophoresis.

2. Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X-linked gene.

3. Long-range restriction map of the terminal part of the short arm of the human X chromosome.

4. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

5. Abnormal X chromosomes in man: origin, behavior and effects.

6. Isolabeling of the long arm of the human Y chromosome demonstrated by the FPG technique.

7. Characterization of the human factor VIII gene.

8. A strategy to reveal high-frequency RFLPs along the human X chromosome.

9. Late replicating bands of human chromosomes demonstrated by fluorochrome and Giemsa staining.

10. Genetic heterogeneity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase.

1. Iridoschisis: high frequency ultrasound imaging. Evidence for a genetic defect?

Review 2. Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.

3. Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.