PCR analysis and sequencing of the SRY sex determining gene in four patients with bilateral congenital anorchia.

Abstract:

OBJECTIVE:We explored the possibility of a genetic anomaly in the sex determining region of the Y chromosome, SRY gene, known to be equated to the testis determining region. PATIENTS:Four patients with bilateral congenital anorchia, absence of testicular tissue, elevated FSH and a lack of testosterone response to human chorionic gonadotrophin stimulation tests were studied. MEASUREMENTS:Amplification by polymerase chain reaction of the SRY gene and direct double stranded DNA sequencing were performed with the same primers. RESULTS:The expected 648 basepairs band of SRY was detected in the four DNA samples from patients with bilateral congenital anorchia. Direct sequencing did not show any difference with the previous published sequence. CONCLUSIONS:These data suggest that, in the four patients, bilateral congenital anorchia is not related to an anomaly of the opening reading frame sequence of the SRY gene.

journal_name

Clin Endocrinol (Oxf)

journal_title

Clinical endocrinology

authors

Lobaccaro JM,Medlej R,Berta P,Belon C,Galifer RB,Guthmann JP,Chevalier C,Czernichow P,Dumas R,Sultan C

doi

10.1111/j.1365-2265.1993.tb00993.x

subject

Has Abstract

pub_date

1993-02-01 00:00:00

pages

197-201

issue

2

eissn

0300-0664

issn

1365-2265

journal_volume

38

pub_type

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