The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years ago.
J Hum Genet
; 65(7): 619-625, 2020 Jul.
Article
en En
| MEDLINE
| ID: mdl-32246049
ABSTRACT
The Fabry disease-causing mutation, the GLA IVS4+919G>A (designated GLA IVS4), is very prevalent in patients with hypertrophic cardiomyopathy in Taiwan. This X-linked mutation has also been found in patients in Kyushu, Japan and Southeast Asia. To investigate the age and the possible ancestral origin of this mutation, a total of 33 male patients with the GLA IVS4+919G>A mutation, born in Taiwan, Japan, Singapore, Malaysia, Vietnam, and the Fujian and Guangdong provinces of China, were studied. Peripheral bloods were collected, and the Ilumina Infinium CoreExome-24 microarray was used for dense genotyping. A mutation-carrying haplotype was discovered which was shared by all 33 patients. This haplotype does not exist in 15 healthy persons without the mutation. Rather, a wide diversity of haplotypes was found in the vicinity of the mutation site, supporting the existence of a single founder of the GLA IVS4 mutation. The age of the founder mutation was estimated by the lengths of the mutation-carrying haplotypes based on the linkage-disequilibrium decay theory. The first, second, and third quartile of the age estimates are 800.7, 922.6, and 1068.4 years, respectively. We concluded that the GLA IVS4+919G>A mutation originated from a single mutational event that occurred in a Chinese chromosome more than 800 years ago.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Enfermedad de Fabry
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Alfa-Galactosidasa
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Cardiomiopatía Hipertrófica Familiar
Límite:
Adult
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Humans
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Male
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Middle aged
País como asunto:
Asia
Idioma:
En
Año:
2020
Tipo del documento:
Article