Gene: [0Yp112/TDF] testis-determining factor, Y-linked; histocompatibility Y antigen, inductor Y-linked; gonadal dysgenesis, XY female type (Swyer syndrome); [HYAI GDXYF ]

COM

The MIM describes this marker as X-linked (TDFX).

HET

In addition to testicular feminization syndrome (GEM:0Xq12/AR), which is clinically and pathogenetically specified definitely enough, the MIM catalogue describes several other genetic markers and clinical types of gonadal dysgenesis, possibly related with this group of sex determining genes: MIM:143150 - a putative receptor for HY antigen (both the gene and its product are not identified); MIM:143170 - antigen HY (GEM:0Yp11/HYA); MIM:233300 - XX type gonadal dysgenesis (gene is unknown); MIM:233400 - XX type gonadal dysgenesis with sensory deafness (Perrault syndrome, gene is unknown); MIM:233420 and MIM:233430 - XY type gonadal dysgenesis (genes are not identified, however, they possibly code for X- and Y-linked regulators of HY antigen expression); MIM:273150 - rudimentary testicles (gene is unknown); MIM:273250 - testicular regression stndrome (TRS; XY gonadal agenesia; familial anorchia); MIM:306970 - regulator of HY antigen expression (HYR; both the gene and its product are not identified)."

REF

MAP "Affara &: NAR, 14, N13, 5353-5373, 1986a
MAP "Affara &: NAR, 14, N13, 5375-5387, 1986b
LOC "Faggiano M &: Hum Genet, 54, 323-326, 1980
MAP "Pritchard CA &: NAR, 15, N15, 6159-6169, 1987
FAG "Simpson E &: Nature, 326, 876-878, 1987

KEY

sex

CLA

coding, basic

LOC

0Y p11.2

MIM

MIM: 306100

SYN

HYAI GDXYF

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