Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers.

Literature DB >> 2035525

Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers.

R I Richards¹, Y Shen, K Holman, H Kozman, V J Hyland, J C Mulley, G R Sutherland.

Abstract

We describe two highly polymorphic microsatellite AC repeat sequences, VK23AC and VK14AC, which are closely linked to the fragile X at Xq27.3. Both VK23AC (DXS297) and VK14AC (DXS292) are proximal to the fragile site. Two-point linkage analysis in 31 fragile X families gave (a) a recombination frequency of 1% (range 0.00%-4%) with a maximum lod score of 32.04 for DXS297 and (b) a recombination frequency of 7% (range of 3%-15%) with a maximum lod score of 12.87 for DXS292. Both of these polymorphisms are applicable to diagnosis by linkage in families with fragile X syndrome. A multipoint linkage map of genetic markers at Xq27.3 was constructed from genotyping these polymorphisms in the CEPH pedigrees. The DXS292 marker is in the DXS98-DXS297 interval and in 3 cM proximal to DXS297.

Entities: Disease

Mesh：

Substances：

Year: 1991 PMID： 2035525 PMCID： PMC1683096

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

15 in total

1. Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome.

Authors: J Dausset; H Cann; D Cohen; M Lathrop; J M Lalouel; R White
Journal: Genomics Date: 1990-03 Impact factor: 5.736

2. Assignment of anonymous DNA probes to specific intervals of human chromosomes 16 and X.

Authors: V J Hyland; K E Fernandez; D F Callen; R N MacKinnon; E Baker; K Friend; G R Sutherland
Journal: Hum Genet Date: 1989-08 Impact factor: 4.132

3. Report of the Committee on Methods of Linkage Analysis and Reporting.

Authors: P M Conneally; J H Edwards; K K Kidd; J M Lalouel; N E Morton; J Ott; R White
Journal: Cytogenet Cell Genet Date: 1985

4. Linkage between the fragile X and F9, DXS52 (St14), DXS98 (4D-8) and DXS105 (cX55.7).

Authors: J Mulley; G Turner; S Bain; G R Sutherland
Journal: Am J Med Genet Date: 1988 May-Jun

5. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

Authors: J L Weber; P E May
Journal: Am J Hum Genet Date: 1989-03 Impact factor: 11.025

6. Genetic mapping of new RFLPs at Xq27-q28.

Authors: G K Suthers; I Oberlé; J Nancarrow; J C Mulley; V J Hyland; P J Wilson; J McCure; C P Morris; J J Hopwood; J L Mandel
Journal: Genomics Date: 1991-01 Impact factor: 5.736

7. Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers.

Authors: I Oberlé; R Heilig; J P Moisan; C Kloepfer; G M Mattéi; J F Mattéi; J Boué; U Froster-Iskenius; P A Jacobs; G M Lathrop
Journal: Proc Natl Acad Sci U S A Date: 1986-02 Impact factor: 11.205

8. A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene.

Authors: M Litt; J A Luty
Journal: Am J Hum Genet Date: 1989-03 Impact factor: 11.025

9. The common fragile site in band q27 of the human X chromosome is not coincident with the fragile X.

Authors: G R Sutherland; E Baker
Journal: Clin Genet Date: 1990-03 Impact factor: 4.438

Review 10. Diagnostic molecular genetics of the fragile X.

Authors: G R Sutherland; J C Mulley
Journal: Clin Genet Date: 1990-01 Impact factor: 4.438

18 in total

Review 1. Molecular analysis of the fragile X syndrome.

Authors: M C Hirst; S M Knight; Y Nakahori; A Roche; K E Davies
Journal: J Inherit Metab Dis Date: 1992 Impact factor: 4.982

2. Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.

Authors: J T Clarke; P J Wilson; C P Morris; J J Hopwood; R I Richards; G R Sutherland; P N Ray
Journal: Am J Hum Genet Date: 1992-08 Impact factor: 11.025

3. Nucleosomal occupancy and CGG repeat expansion: a comparative analysis of triplet repeat region from mouse and human fragile X mental retardation gene 1.

Authors: Sonal Datta; Mohammad Parwez Alam; Subeer S Majumdar; Abhishek Kumar Mehta; Souvik Maiti; Neerja Wadhwa; Vani Brahmachari
Journal: Chromosome Res Date: 2011-04-16 Impact factor: 5.239

Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers.

1. Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome.

2. Assignment of anonymous DNA probes to specific intervals of human chromosomes 16 and X.

3. Report of the Committee on Methods of Linkage Analysis and Reporting.

4. Linkage between the fragile X and F9, DXS52 (St14), DXS98 (4D-8) and DXS105 (cX55.7).

5. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

6. Genetic mapping of new RFLPs at Xq27-q28.

7. Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers.

8. A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene.

9. The common fragile site in band q27 of the human X chromosome is not coincident with the fragile X.

Review 10. Diagnostic molecular genetics of the fragile X.

Review 1. Molecular analysis of the fragile X syndrome.

2. Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome.

3. Nucleosomal occupancy and CGG repeat expansion: a comparative analysis of triplet repeat region from mouse and human fragile X mental retardation gene 1.

4. Dinucleotide repeat polymorphisms at the DXS294 and DXS300 loci in Xq26.

5. Dinucleotide repeat polymorphism at the D16S288 locus.

6. An STS at the D16S290 locus.

7. Fragile-X syndrome: unique genetics of the heritable unstable element.

8. X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.

9. Isolation of a human DNA sequence which spans the fragile X.

10. Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors.