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Literature DB >> 2903666

Linkage studies in a large fragile X family.

M Patterson¹, M Bell, W Kress, K E Davies, U Froster-Iskenius.

Abstract

We have analyzed the segregation of five loci in the region Xq27/28 in a large family affected by the fragile X syndrome. The marker DXS115 (767) is shown to be polymorphic with the enzyme PstI, as well as with BstXI. This marker will be useful in the analysis of both fragile X and haemophilia A families. The data presented here are consistent with the following order of loci: Xcen-F9-DXS105(cX55.7,55E)-DXS98(4D-8)- FRAXA-DXS52(St14)-DXS115(767)-qter.

Entities: Disease Gene

Mesh：

Substances：

Year: 1988 PMID： 2903666 PMCID： PMC1715522

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

24 in total

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

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Authors: P W Rigby; M Dieckmann; C Rhodes; P Berg
Journal: J Mol Biol Date: 1977-06-15 Impact factor: 5.469

3. The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency.

Authors: I Oberlé; D Drayna; G Camerino; R White; J L Mandel
Journal: Proc Natl Acad Sci U S A Date: 1985-05 Impact factor: 11.205

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Authors: K E Davies; J L Mandel; J Weissenbach; M Fellous
Journal: Cytogenet Cell Genet Date: 1987

5. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors: A P Feinberg; B Vogelstein
Journal: Anal Biochem Date: 1983-07-01 Impact factor: 3.365

6. Screening for fra(X)(q) in a population of mentally retarded males.

Authors: U Froster-Iskenius; G Felsch; C Schirren; E Schwinger
Journal: Hum Genet Date: 1983 Impact factor: 4.132

7. Easy calculations of lod scores and genetic risks on small computers.

Authors: G M Lathrop; J M Lalouel
Journal: Am J Hum Genet Date: 1984-03 Impact factor: 11.025

8. Transmission of the marker X syndrome trait by unaffected males: conclusions from studies of large families.

Authors: U Froster-Iskenius; A Schulze; E Schwinger
Journal: Hum Genet Date: 1984 Impact factor: 4.132

9. Further segregation analysis of the fragile X syndrome with special reference to transmitting males.

Authors: S L Sherman; P A Jacobs; N E Morton; U Froster-Iskenius; P N Howard-Peebles; K B Nielsen; M W Partington; G R Sutherland; G Turner; M Watson
Journal: Hum Genet Date: 1985 Impact factor: 4.132

10. Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26----qter.

Authors: B A Boggs; R L Nussbaum
Journal: Somat Cell Mol Genet Date: 1984-11

7 in total

1. Improved carrier detection of haemophilia A using novel RFLPs at the DXS115 (767) locus.

Authors: P Jedlicka; S Greer; D S Millar; C B Grundy; E Jenkins; M Mitchell; R S Mibashan; V V Kakkar; D N Cooper
Journal: Hum Genet Date: 1990-08 Impact factor: 4.132

2. A new marker at DXS 115 useful for carrier detection in hemophilia A.

Authors: M Wehnert; W Schröder; F H Herrmann
Journal: Hum Genet Date: 1990-11 Impact factor: 4.132

3. An intronic region within the human factor VIII gene is duplicated within Xq28 and is homologous to the polymorphic locus DXS115 (767).

Authors: M Patterson; J Gitschier; J Bloomfield; M Bell; H Dorkins; U Froster-Iskenius; S Sommer; J Sobell; D Schaid; S Thibodeau
Journal: Am J Hum Genet Date: 1989-05 Impact factor: 11.025