Homeobox XXXX gene analysis in @entity246 .

@entity1 @entity249 @entity19 @entity30995 @entity246 @entity35770 @entity32407 @entity72421
BACKGROUND: In male @entity19 , targeted disruption of the homeobox gene @entity30995 causes @entity246 and @entity249 . Genetic alterations in exon 1 of @entity35770 have been found in a high number of @entity1 with @entity246 . AIM: To evaluate whether mutations of @entity35770 can be a common cause of @entity246 . @entity1 AND METHODS: Genomic DNA was extracted from 18 @entity1 with @entity246 (age 7-44 years; unilateral n = 13; no familial cases) and 28 healthy controls (age 9-39 years). @entity35770 was amplified by PCR and all coding sequences of exon 1 and 2 were sequenced. The PCR products were digested by ScrFI restriction enzyme and the restriction fragments obtained were analyzed on 2% agarose gel. RESULTS: One silent polymorphism, @entity72421 , was detected in 2/18 @entity1 (11.1%). The same polymorphism was detected in 3/28 controls (10.7%). CONCLUSIONS: These data on @entity35770 analysis indicate that alterations of this gene may be more rare in males with @entity246 than previously suggested. This finding agrees with the rare occurrence of @entity32407 gene mutations in @entity1 @entity246 , but needs to be confirmed in a larger series of selected @entity1 .
