[Mutation analysis for a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome].

[alpha-thalassemia]

To identify potential mutation in a Chinese family featuring X-linked alpha thalassemia /mental retardation syndrome (ATR -X ).Based on clinical symptoms and inheritance pattern , linkage analysis of X chromosome short tandem repeats (X-STR ) loci was carried out to locate the candidate gene . Subsequently , sequences of exons and exon-intron boundaries of the candidate gene were amplified with polymerase chain reaction (PCR ). Potential mutations were detected by direct DNA sequencing . All patients were also analyzed for the trait of thalassemia .Linkage analysis indicated the candidate gene to be ATRX . Subsequently , a homozygous missense mutation c .736 C >T (p .R 246 C ) was found in exon 9 of ATRX in all of the 3 patients . And a heterozygous mutation c .736 C >T (p .R 246 C ) was also identified in the patient 's mother and grandmother . Similar mutations were not detected in other members of the family . Alpha thalassemia was detected in the proband and another patient , whose genotypes were determined as -α (3 .7 )/αα and --(sea )/αα , respectively .Missense mutation of c .736 C >T in ATRX gene is a mutation hotspot , and p .R 246 C may disturb the function of ATRX -DNMT 3 -DNMT 3 L domain (ADD ), which may be responsible for the disease in this family .

Diseases
Validation

Diseases presenting "the candidate gene to be atrx" symptom

alpha-thalassemia

You can validate or delete this automatically detected symptom