The Journal of urology · 2002
The insulin-3 gene: lack of a genetic basis for human cryptorchidism.
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Baker Linda A, Nef Serge, Nguyen Michael T, Stapleton Ronita, Nordenskjold Agneta, Pohl Hans, Parada Luis F
Аннотация
PURPOSE: The etiology of cryptorchidism appears to be multifactorial and related to hormonal and mechanical factors. Recently, the insulin-3 gene (INSL3) was noted to have a role in mouse gubernacular development and testicular descent. Knockout male mice for the INSL3 gene show isolated bilateral cryptorchidism. This phenotype suggests that INSL3 may have a role in the development of human cryptorchidism. Using single strand conformational polymorphism analysis we detected mutations of the INSL3 gene in boys with cryptorchidism.
MATERIALS AND METHODS: Genomic DNA from 118 boys with cryptorchidism and 48 normal controls were obtained from 3 institutions. Using polymerase chain reaction with INSL3 sequence specific primers DNA fragments were analyzed using single strand conformational polymorphism reactions. Samples with band shifts were re-amplified and sequenced to detect mutations.
RESULTS: A single base substitution (G greater than A) causing an amino acid change (missense mutation) was identified in 27 of 118 cryptorchid (23%) samples and 12 of 48 normal (25%) samples. Two other base substitutions did not produce alterations in the amino acid sequence (silent mutations).
CONCLUSIONS: Although a common polymorphism was detected in the INSL3 gene, no specific mutations were detected in a large population of individuals with cryptorchidism. Therefore, mutations in the coding region of the INSL3 gene are not a common cause of human cryptorchidism.
MATERIALS AND METHODS: Genomic DNA from 118 boys with cryptorchidism and 48 normal controls were obtained from 3 institutions. Using polymerase chain reaction with INSL3 sequence specific primers DNA fragments were analyzed using single strand conformational polymorphism reactions. Samples with band shifts were re-amplified and sequenced to detect mutations.
RESULTS: A single base substitution (G greater than A) causing an amino acid change (missense mutation) was identified in 27 of 118 cryptorchid (23%) samples and 12 of 48 normal (25%) samples. Two other base substitutions did not produce alterations in the amino acid sequence (silent mutations).
CONCLUSIONS: Although a common polymorphism was detected in the INSL3 gene, no specific mutations were detected in a large population of individuals with cryptorchidism. Therefore, mutations in the coding region of the INSL3 gene are not a common cause of human cryptorchidism.