A novel deletion mutation in AR gene causes complete androgen insensitivity syndrome in a Chinese family / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 631-633, 2010.
Article
in Chinese
| WPRIM
| ID: wpr-234349
ABSTRACT
<p><b>OBJECTIVE</b>To identify the mutation of the androgen receptor (AR) gene in a complete androgen insensitivity family.</p><p><b>METHODS</b>DNA was extracted from peripheral blood samples from family members in the family. PCR and DNA sequencing were then employed to detect the mutation of AR gene.</p><p><b>RESULTS</b>A single nucleotide deletion of nucleotide A in exon 4 of the AR gene (1910delA) was detected in all the three patients in this family, which lead to Asn637Ile and Lys638stop. This mutation was also found in the mother (heterozygote) but was not observed in the normal controls.</p><p><b>CONCLUSION</b>The 1910delA mutation of the AR gene is a novel mutation that leads to complete androgen insensitivity syndrome.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Androgen-Insensitivity Syndrome
/
DNA Mutational Analysis
/
Molecular Sequence Data
/
Base Sequence
/
Receptors, Androgen
/
Exons
/
Sequence Deletion
/
Asian People
/
Genetics
Type of study:
Etiology study
Limits:
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2010
Type:
Article
Similar
MEDLINE
...
LILACS
LIS