Gene: [0Yp112/TDF] testis-determining factor, Y-linked; histocompatibility Y antigen, inductor Y-linked; gonadal dysgenesis, XY female type (Swyer syndrome); [HYAI GDXYF ]
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COM |
The MIM describes this marker as X-linked (TDFX). |
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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)." |
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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 |
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KEY |
sex |
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CLA |
coding, basic |
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LOC |
0Y p11.2 |
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MIM |
MIM: 306100 |
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SYN |
HYAI GDXYF |
