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A reinvestigation of thirty three fragile(X) families using probe StB12.3

A reinvestigation of thirty three fragile(X) families using probe StB12.3
A reinvestigation of thirty three fragile(X) families using probe StB12.3
We have reinvestigated 33 fragile X families using probe StB12.3. In 31 families the affected individual showed an insert while in 2 families no insert was detected.

The insert fell into two size categories: small (< 0.5 kb); and large (> 0.6 kb) accompanied by methylation of an EagI site. All individuals of either sex having a small insert were fra(X) negative and intellectually normal, while all males having a large insert were fra(X) positive and intellectually impaired. Females having a large insert were either fra(X) positive or negative and either intellectually normal or impaired.

No new mutation was found. All daughters of males with a small insert had a small insert; females with a large insert produced males and females who had a large insert, while females with a small insert had offspring with either a large or a small insert. However, females with a small insert tended to fall into one of two categories: either they had only children with a small insert or only children with a large insert, there being only one exception to this rule.

We found four unexpected small inserts, two in unrelated spouses and two in female carriers who proved to be compound heterozygotes, indicating that they had inherited an insert from both their parents. These observations suggest that individuals with a small insert must be not uncommon in the general population
1552-4841
905-912
Macpherson, James
133e44ad-e114-4732-b28e-0dfa2348d696
Harvey, John
a7328604-3a69-45c1-9538-d579dfa1fee8
Curtis, Greta
33796334-4456-44c6-a2e4-6509549cbc98
Webb, Tessa
1cd40bd1-55b1-4b55-960a-d84b469e37b7
Heitz, Dominique
86398366-357b-4773-98de-c5967553d0b4
Rousseau, Francois
3b3fae37-8d8d-4e3d-b836-0c51062e09c0
Jacobs, Patricia
4d418459-1dd4-432f-9183-a3077ca3caba
Macpherson, James
133e44ad-e114-4732-b28e-0dfa2348d696
Harvey, John
a7328604-3a69-45c1-9538-d579dfa1fee8
Curtis, Greta
33796334-4456-44c6-a2e4-6509549cbc98
Webb, Tessa
1cd40bd1-55b1-4b55-960a-d84b469e37b7
Heitz, Dominique
86398366-357b-4773-98de-c5967553d0b4
Rousseau, Francois
3b3fae37-8d8d-4e3d-b836-0c51062e09c0
Jacobs, Patricia
4d418459-1dd4-432f-9183-a3077ca3caba

Macpherson, James, Harvey, John, Curtis, Greta, Webb, Tessa, Heitz, Dominique, Rousseau, Francois and Jacobs, Patricia (1992) A reinvestigation of thirty three fragile(X) families using probe StB12.3. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 43 (5), 905-912. (doi:10.1002/ajmg.1320430535). (PMID:1642285)

Record type: Article

Abstract

We have reinvestigated 33 fragile X families using probe StB12.3. In 31 families the affected individual showed an insert while in 2 families no insert was detected.

The insert fell into two size categories: small (< 0.5 kb); and large (> 0.6 kb) accompanied by methylation of an EagI site. All individuals of either sex having a small insert were fra(X) negative and intellectually normal, while all males having a large insert were fra(X) positive and intellectually impaired. Females having a large insert were either fra(X) positive or negative and either intellectually normal or impaired.

No new mutation was found. All daughters of males with a small insert had a small insert; females with a large insert produced males and females who had a large insert, while females with a small insert had offspring with either a large or a small insert. However, females with a small insert tended to fall into one of two categories: either they had only children with a small insert or only children with a large insert, there being only one exception to this rule.

We found four unexpected small inserts, two in unrelated spouses and two in female carriers who proved to be compound heterozygotes, indicating that they had inherited an insert from both their parents. These observations suggest that individuals with a small insert must be not uncommon in the general population

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Published date: July 1992
Organisations: Faculty of Health Sciences

Identifiers

Local EPrints ID: 366298
URI: https://eprints.soton.ac.uk/id/eprint/366298
ISSN: 1552-4841
PURE UUID: f8247de7-a826-4a29-be39-1203c7312833

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Date deposited: 07 Jul 2014 09:01
Last modified: 18 Jul 2017 02:14

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Contributors

Author: James Macpherson
Author: John Harvey
Author: Greta Curtis
Author: Tessa Webb
Author: Dominique Heitz
Author: Francois Rousseau
Author: Patricia Jacobs

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